ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.292C>T (p.Arg98Trp)

gnomAD frequency: 0.00003  dbSNP: rs777046481
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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 RCV001904059 SCV002118027 uncertain significance not provided 2023-09-13 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. 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 SLC6A19 protein function. ClinVar contains an entry for this variant (Variation ID: 1358021). This variant has not been reported in the literature in individuals affected with SLC6A19-related conditions. This variant is present in population databases (rs777046481, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 98 of the SLC6A19 protein (p.Arg98Trp).
Fulgent Genetics, Fulgent Genetics RCV002503397 SCV002809378 uncertain significance Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2022-02-19 criteria provided, single submitter clinical testing

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