ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.1603C>T (p.Arg535Cys)

gnomAD frequency: 0.00006  dbSNP: rs370093464
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Elsea Laboratory, Baylor College of Medicine RCV001250078 SCV001424196 uncertain significance Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2020-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002570411 SCV002938578 uncertain significance not provided 2022-05-25 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 535 of the SLC6A19 protein (p.Arg535Cys). This variant is present in population databases (rs370093464, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SLC6A19-related conditions. ClinVar contains an entry for this variant (Variation ID: 973458). 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 SLC6A19 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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