ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.301G>A (p.Ala101Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003083305 SCV003458115 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 101 of the MCCC1 protein (p.Ala101Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs775931500, ExAC 0.01%). 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 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"). 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.
Ambry Genetics RCV004071642 SCV004903536 uncertain significance Inborn genetic diseases 2024-01-22 criteria provided, single submitter clinical testing The c.301G>A (p.A101T) alteration is located in exon 4 (coding exon 4) of the MCCC1 gene. This alteration results from a G to A substitution at nucleotide position 301, causing the alanine (A) at amino acid position 101 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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