ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile)

dbSNP: rs782364666
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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 RCV000696305 SCV000824857 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX 2018-05-03 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 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 disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces threonine with isoleucine at codon 476 of the HCFC1 protein (p.Thr476Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine.

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