ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) (rs746500530)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549808 SCV000656961 uncertain significance 3 Methylcrotonyl-CoA carboxylase 1 deficiency 2016-08-18 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 288 of the MCCC1 protein (p.Glu288Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs746500530, ExAC 0.04%). This variant has been reported in a homozygous individual with 3MCC deficiency who was reportedly asymptomatic at 7 years of age (PMID: 22642865). Experimental studies have shown that this missense change impairs the activity of the encoded enzyme (PMID: 22642865). In summary, this is a rare missense variant has been observed in the general population as well as reported in an individual with 3MCC deficiency.  Experimental data supports that this variant disrupts protein function, however, additional genetic evidence is needed to ascertain the clinical relevance of this variant. For these reasons, this change has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001275512 SCV001460697 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-09-16 no assertion criteria provided clinical testing

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