ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.3317A>C (p.Asn1106Thr)

dbSNP: rs2065360777
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001232383 SCV001404939 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX 2019-08-20 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with HCFC1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with threonine at codon 1106 of the HCFC1 protein (p.Asn1106Thr). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and threonine.

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