ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.1409A>C (p.Glu470Ala)

dbSNP: rs2147837732
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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 RCV002009171 SCV002274588 uncertain significance Mitochondrial trifunctional protein deficiency 2021-05-07 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 HADHB-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with alanine at codon 470 of the HADHB protein (p.Glu470Ala). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and alanine.

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