ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.1468G>A (p.Gly490Ser)

gnomAD frequency: 0.00001  dbSNP: rs775323445
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197345 SCV001368039 uncertain significance Iminoglycinuria 2019-03-20 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Fulgent Genetics, Fulgent Genetics RCV002484070 SCV002786021 uncertain significance Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2021-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003117840 SCV003789174 uncertain significance not provided 2022-03-28 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 490 of the SLC6A19 protein (p.Gly490Ser). This variant is present in population databases (rs775323445, 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: 931106). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV003293988 SCV004002297 uncertain significance Inborn genetic diseases 2023-06-02 criteria provided, single submitter clinical testing The c.1468G>A (p.G490S) alteration is located in exon 10 (coding exon 10) of the SLC6A19 gene. This alteration results from a G to A substitution at nucleotide position 1468, causing the glycine (G) at amino acid position 490 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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