ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.985G>A (p.Ala329Thr)

gnomAD frequency: 0.00001  dbSNP: rs199795977
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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 RCV002040859 SCV002308062 uncertain significance not provided 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 329 of the SLC6A19 protein (p.Ala329Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs199795977, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with SLC6A19-related conditions. 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 expected to disrupt SLC6A19 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 RCV002486732 SCV002788948 uncertain significance Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2022-04-01 criteria provided, single submitter clinical testing

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