ClinVar Miner

Submissions for variant NM_139319.3(SLC17A8):c.161C>T (p.Pro54Leu)

gnomAD frequency: 0.00006  dbSNP: rs372830647
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001957682 SCV002212988 uncertain significance not provided 2021-10-09 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with autosomal dominant deafness (PMID: 26969326). This variant is present in population databases (rs372830647, ExAC 0.003%). This sequence change replaces proline with leucine at codon 54 of the SLC17A8 protein (p.Pro54Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.

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