ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.8239G>A (p.Asp2747Asn)

gnomAD frequency: 0.00006  dbSNP: rs374160194
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000333765 SCV000401195 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825967 SCV000967455 uncertain significance not specified 2018-09-26 criteria provided, single submitter clinical testing The p.Asp2747Asn variant in MYO15A has not been previously reported in individua ls with hearing loss but has been identified in 0.007% (9/125916) of European ch romosomes and 0.008% (2/23862) of African chromosomes by gnomAD (http://gnomad.b roadinstitute.org). This variant has been reported in ClinVar (Variation ID 3221 70). Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this varia nt is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV002521098 SCV003026193 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing

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