Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000302453 | SCV000374341 | 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, |
RCV000359563 | SCV000374342 | likely benign | 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Illumina Laboratory Services, |
RCV000271790 | SCV000374343 | 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. |
Invitae | RCV001039078 | SCV001202589 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001039078 | SCV001773600 | uncertain significance | not provided | 2019-07-19 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Breda Genetics srl | RCV000271790 | SCV001961006 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 2 | 2021-02-03 | criteria provided, single submitter | clinical testing | The variant in c.3415G>A (p.Gly1139Ser) the MYO7A gene is reported with conflicting interpretation of pathogenicity for usher syndrome type 1, autosomal recessive deafness 2, and autosomal dominant deafness 11 in ClinVar (Variation ID: 306182). The variant is reported with an estimated allele frequency of 0.0000262 in gnomAD exomes and 0.0003 in gnomAD genomes, with no homozygous individuals reported. The nucleotide position is conserved across 35 mammalian species (GERP RS: 5.02). In silico analysis gives inconsistent results. |
Ambry Genetics | RCV003298369 | SCV004002260 | uncertain significance | Inborn genetic diseases | 2023-04-19 | criteria provided, single submitter | clinical testing | The c.3415G>A (p.G1139S) alteration is located in exon 27 (coding exon 26) of the MYO7A gene. This alteration results from a G to A substitution at nucleotide position 3415, causing the glycine (G) at amino acid position 1139 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001828314 | SCV002086666 | uncertain significance | Usher syndrome type 1B | 2019-11-11 | no assertion criteria provided | clinical testing |