ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.1023C>T (p.Asp341=)

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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 RCV002974994 SCV003281496 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2023-12-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003988041 SCV004804003 likely benign not specified 2024-01-30 criteria provided, single submitter clinical testing Variant summary: HCFC1 c.1023C>T alters a conserved nucleotide resulting in a synonymous change. The variant allele was found at a frequency of 2.5e-05 in 1196119 control chromosomes, including 14 hemizygotes (gnomAD v4). This frequency is not significantly higher than estimated for a pathogenic variant in HCFC1 causing Methylmalonic Acidemia With Homocystinuria (2.5e-05 vs 0.00035), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1023C>T in individuals affected with Methylmalonic Acidemia With Homocystinuria and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 2068665). Based on the evidence outlined above, the variant was classified as likely benign.

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