ClinVar Miner

Submissions for variant NM_139319.3(SLC17A8):c.1330C>T (p.Arg444Cys)

gnomAD frequency: 0.00004  dbSNP: rs374159026
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001914176 SCV002195140 uncertain significance not provided 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 444 of the SLC17A8 protein (p.Arg444Cys). This variant is present in population databases (rs374159026, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SLC17A8-related conditions. ClinVar contains an entry for this variant (Variation ID: 1420306). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SLC17A8 protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002479430 SCV002793006 uncertain significance Autosomal dominant nonsyndromic hearing loss 25 2021-07-28 criteria provided, single submitter clinical testing

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