ClinVar Miner

Submissions for variant NM_001046.3(SLC12A2):c.2962C>T (p.Pro988Ser)

dbSNP: rs1581138965
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hereditary Hearing Loss Research Unit, University of Madras RCV001249186 SCV001366123 pathogenic Sensorineural hearing loss disorder criteria provided, single submitter case-control
Labcorp Genetics (formerly Invitae), Labcorp RCV002570394 SCV003313082 pathogenic not provided 2022-03-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 not expected to disrupt SLC12A2 protein function. ClinVar contains an entry for this variant (Variation ID: 972899). This missense change has been observed in individual(s) with autosomal dominant deafness (PMID: 34374074). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 988 of the SLC12A2 protein (p.Pro988Ser).

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