ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser)

gnomAD frequency: 0.00005  dbSNP: rs782310209
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001327000 SCV001518057 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 1563 of the HCFC1 protein (p.Gly1563Ser). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs782310209, ExAC 0.04%). 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: "Benign"; Align-GVGD: "Class C0". The serine 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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