ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.1126G>T (p.Ala376Ser) (rs545251395)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000607742 SCV000713801 uncertain significance not specified 2018-01-09 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ala376Ser var iant in WHRN has not been previously reported in individuals with hearing loss, but has been identified in 0.09% (28/30778) of South Asian chromosomes including 1 homozygote by the Genome Aggregation Database (gnomAD, http://gnomad.broadins titute.org; dbSNP rs545251395). Computational prediction tools and conservation analysis suggest that the p.Ala376Ser variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary , while the clinical significance of the p.Ala376Ser variant is uncertain, avail able data suggest that this variant is more likely to be benign. ACMG/AMP criter ia applied: BP4
Invitae RCV000977705 SCV001125624 likely benign not provided 2020-06-22 criteria provided, single submitter clinical testing

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