ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) (rs747076316)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664579 SCV000788566 likely pathogenic Pendred syndrome 2017-04-24 criteria provided, single submitter clinical testing
Invitae RCV001061723 SCV001226476 likely pathogenic not provided 2019-01-23 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 448 of the SLC26A4 protein (p.Ser448Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs747076316, ExAC 0.02%). This variant has been observed in individuals affected with SLC26A4-related diseases (PMID: 15933521, 23965030, 21961810, 24612839, 17697873, 17443271, 18813951, 21557232). ClinVar contains an entry for this variant (Variation ID: 549979). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Natera, Inc. RCV000664579 SCV001459927 likely pathogenic Pendred syndrome 2020-09-16 no assertion criteria provided clinical testing

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