ClinVar Miner

Submissions for variant NM_000687.4(AHCY):c.1009A>G (p.Ile337Val)

dbSNP: rs771507250
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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 RCV001917369 SCV002157790 uncertain significance Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 2021-04-22 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 337 of the AHCY protein (p.Ile337Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals 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 RCV002554140 SCV003672829 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.1009A>G (p.I337V) alteration is located in exon 9 (coding exon 9) of the AHCY gene. This alteration results from a A to G substitution at nucleotide position 1009, causing the isoleucine (I) at amino acid position 337 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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