ClinVar Miner

Submissions for variant NM_000687.4(AHCY):c.112C>T (p.Arg38Trp)

gnomAD frequency: 0.01213  dbSNP: rs13043752
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529181 SCV000650490 benign Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 2025-02-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000529181 SCV001300510 likely benign Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Fulgent Genetics, Fulgent Genetics RCV000529181 SCV002813695 benign Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 2022-04-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000529181 SCV004562956 benign Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 2024-11-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704085 SCV005208621 likely benign not provided criteria provided, single submitter not provided

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