Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000356960 | SCV000340315 | uncertain significance | not provided | 2016-03-21 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000825961 | SCV000967449 | uncertain significance | not specified | 2019-02-01 | criteria provided, single submitter | clinical testing | The p.Arg1295Gln variant in MYH14 has not been previously reported in individuals with hearing loss, but has been identified in 2/23862 African chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, BP4. |
Illumina Laboratory Services, |
RCV001133313 | SCV001293007 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 4A | 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. |
Ambry Genetics | RCV002519257 | SCV003730632 | uncertain significance | Inborn genetic diseases | 2022-08-08 | criteria provided, single submitter | clinical testing | The c.3761G>A (p.R1254Q) alteration is located in exon 28 (coding exon 27) of the MYH14 gene. This alteration results from a G to A substitution at nucleotide position 3761, causing the arginine (R) at amino acid position 1254 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Invitae | RCV000356960 | SCV004520224 | likely benign | not provided | 2023-07-17 | criteria provided, single submitter | clinical testing |