ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001381508 SCV001579940 pathogenic not provided 2020-03-26 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 252 of the SLC26A4 protein (p.Ser252Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with SLC26A4-related conditions (PMID: 21961810, 23918157, 24612839, 24341454, 26252218, 20842945, 12676893, 22796198). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
Precision Medicine Center,Zhengzhou University RCV001375686 SCV001572607 pathogenic Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 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

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