ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His)

gnomAD frequency: 0.00001  dbSNP: rs1004412459
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000810818 SCV000951053 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX 2021-08-12 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 1414 of the HCFC1 protein (p.Gln1414His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with clinical features of HCFC1-related conditions (Invitae). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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