ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1339G>A (p.Ala447Thr)

dbSNP: rs546480708
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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 RCV000546862 SCV000656952 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 447 of the MCCC1 protein (p.Ala447Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs546480708, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with MCCC1-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 disruptive. 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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