ClinVar Miner

Submissions for variant NM_000687.4(AHCY):c.1134G>C (p.Lys378Asn)

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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 RCV002627531 SCV002974376 uncertain significance Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 2022-02-06 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals affected with AHCY-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 378 of the AHCY protein (p.Lys378Asn).
Ambry Genetics RCV004973535 SCV005572446 uncertain significance Inborn genetic diseases 2024-09-05 criteria provided, single submitter clinical testing The c.1134G>C (p.K378N) alteration is located in exon 9 (coding exon 9) of the AHCY gene. This alteration results from a G to C substitution at nucleotide position 1134, causing the lysine (K) at amino acid position 378 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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