Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036176 | SCV000059828 | uncertain significance | not specified | 2017-12-21 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Ala1703Val va riant in MYO7A has been previously reported by our laboratory in the heterozygou s state in 2 individuals with hearing loss, but a variant affecting the remainin g copy of the gene was not identified in either and an alternate etiology was fo und in one of them. It has been identified in 0.18% (16/8844) of Ashkenazi Jewis h chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadins titute.org/; dbSNP rs199561332) and is reported in ClinVar (variation ID: 43271) . Computational prediction tools and conservation analysis suggest that the p.Al a1703Val variant may not impact the protein, though this information is not pred ictive enough to rule out pathogenicity. In summary, while the clinical signific ance of the p.Ala1703Val variant is uncertain, these data suggest that it is mor e likely to be benign. ACMG/AMP Criteria applied: BP4. |
Eurofins Ntd Llc |
RCV000724217 | SCV000229850 | uncertain significance | not provided | 2014-11-22 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000404997 | SCV000374420 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 2 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Illumina Laboratory Services, |
RCV000306975 | SCV000374421 | uncertain significance | Usher syndrome type 1 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Illumina Laboratory Services, |
RCV000366371 | SCV000374422 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 11 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Invitae | RCV000724217 | SCV001197753 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724217 | SCV001983338 | uncertain significance | not provided | 2023-06-12 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003934894 | SCV004755386 | likely benign | MYO7A-related condition | 2024-02-13 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001272803 | SCV001455169 | uncertain significance | Usher syndrome type 1B | 2020-04-17 | no assertion criteria provided | clinical testing | |
Genome |
RCV003330409 | SCV004037505 | not provided | MYO7A-Related Disorders | no assertion provided | phenotyping only | Variant classified as Uncertain significance and reported on 08-21-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |