ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro) (rs397516423)

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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 RCV000036462 SCV000060117 uncertain significance not specified 2018-06-08 criteria provided, single submitter clinical testing The p.Ser642Pro variant in SLC26A4 has been previously identified by our laborat ory in three Hispanic individuals with hearing loss, one of whom had a second pa thogenic SLC26A4 variant and was reported to have EVA. This variant has been ide ntified in 0.5% (175/34396) of Latino chromosomes by the Genome Aggregation Data base (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs397516423), which is a f requency high enough to suggest that it may be benign. Computational prediction tools and conservation analyses suggest that this variant may impact the protein , though this information is not predictive enough to determine pathogenicity. I n summary, the clinical significance of this variant is uncertain. ACMG/AMP crit eria applied: PM3, PP3, PP4, BS1.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036462 SCV000345424 likely benign not specified 2016-09-07 criteria provided, single submitter clinical testing

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