ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.1780G>A (p.Ala594Thr)

gnomAD frequency: 0.00004  dbSNP: rs2286247
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001867743 SCV002131874 uncertain significance Atypical glycine encephalopathy 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 667 of the SLC6A9 protein (p.Ala667Thr). This variant is present in population databases (rs2286247, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SLC6A9-related conditions. ClinVar contains an entry for this variant (Variation ID: 1368935). 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: "Benign"; 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.

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