ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly)

gnomAD frequency: 0.00001  dbSNP: rs782122807
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043818 SCV001207584 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX 2020-01-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 1445 of the HCFC1 protein (p.Asp1445Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs782122807, ExAC 0.02%). This variant has not been reported in the literature in individuals with HCFC1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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