ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1871T>C (p.Leu624Pro) (rs1345776426)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825825 SCV000967296 likely benign not specified 2018-05-15 criteria provided, single submitter clinical testing p.Leu624Pro in exon 17 of SLC26A4: This variant is classified as likely benign d ue to a lack of conservation across species, including mammals. Of note, most ot her mammals have a proline (Pro) at this position despite high nearby amino acid conservation. In addition, computational prediction tools and conservation anal ysis suggest that the p.Leu624Pro variant may not impact the protein. This varia nt has been identified in 2/111378 of European chromosomes by the Genome Aggrega tion Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs1345776426). AC MG/AMP criteria applied: BP4_S; PM2.

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