ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.2542A>G (p.Thr848Ala)

dbSNP: rs1131691855
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494599 SCV000583007 uncertain significance not provided 2020-12-15 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001856977 SCV002283743 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX 2021-04-11 criteria provided, single submitter clinical testing 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. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with HCFC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 430244). This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with alanine at codon 848 of the HCFC1 protein (p.Thr848Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine.

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