ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr) (rs782481491)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000299486 SCV000374258 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354619 SCV000374259 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259771 SCV000374260 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825399 SCV000966696 uncertain significance not specified 2018-06-21 criteria provided, single submitter clinical testing The p.Ala601Thr variant in MYO7A has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 4/12458 East As ian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadi nstitute.org; dbSNP rs782481491). This variant has also been reported in ClinVar (Variation ID 306170). Computational prediction tools and conservation analysis suggest that the p.Ala601Thr variant may not impact the protein, though this in formation is not predictive enough to rule out pathogenicity. In summary, the cl inical significance of the p.Ala601Thr variant is uncertain. ACMG/AMP Criteria a pplied: BP4.

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