ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro)

dbSNP: rs1315422549
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001381508 SCV001579940 pathogenic not provided 2024-02-11 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 252 of the SLC26A4 protein (p.Ser252Pro). This variant is present in population databases (no rsID available, gnomAD 0.006%). This missense change has been observed in individual(s) with SLC26A4-related conditions (PMID: 12676893, 20842945, 21961810, 22796198, 23918157, 24341454, 24612839, 26252218). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1065210). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC26A4 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002488192 SCV002786604 pathogenic Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 2024-05-07 criteria provided, single submitter clinical testing
Precision Medicine Center, Zhengzhou University RCV001375686 SCV001572607 pathogenic Autosomal recessive nonsyndromic hearing loss 4 no assertion criteria provided research PM2: gnomAD genomes East Asian allele frequency =0.00005437<0.00007 PM3_VeryStrong: Pathogenic mutation confirmed in trans in five patients PP3: REVEL score >0.7 PP4: Patient's phenotype highly specific for gene
Natera, Inc. RCV001836381 SCV002079977 pathogenic Pendred syndrome 2020-03-13 no assertion criteria provided clinical testing

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