ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.4417A>G (p.Thr1473Ala)

gnomAD frequency: 0.00017  dbSNP: rs201714172
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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 RCV001964912 SCV002199888 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX 2022-06-09 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1473 of the HCFC1 protein (p.Thr1473Ala). This variant is present in population databases (rs201714172, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with HCFC1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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