ClinVar Miner

Submissions for variant NM_000687.4(AHCY):c.946G>A (p.Val316Met)

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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 RCV002914998 SCV003268720 uncertain significance Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 2022-05-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 316 of the AHCY protein (p.Val316Met). This variant is present in population databases (rs140039996, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with AHCY-related conditions. 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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 RCV003348946 SCV004061034 uncertain significance Inborn genetic diseases 2023-08-16 criteria provided, single submitter clinical testing The c.946G>A (p.V316M) alteration is located in exon 8 (coding exon 8) of the AHCY gene. This alteration results from a G to A substitution at nucleotide position 946, causing the valine (V) at amino acid position 316 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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