ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.428A>T (p.Lys143Met)

gnomAD frequency: 0.00002  dbSNP: rs375326791
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001043221 SCV001206942 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with methionine, which is neutral and non-polar, at codon 143 of the MCCC1 protein (p.Lys143Met). This variant is present in population databases (rs375326791, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MCCC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 841074). 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: "Deleterious"; PolyPhen-2: "Possibly 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 RCV002551529 SCV003682785 uncertain significance Inborn genetic diseases 2021-08-10 criteria provided, single submitter clinical testing The c.428A>T (p.K143M) alteration is located in exon 5 (coding exon 5) of the MCCC1 gene. This alteration results from a A to T substitution at nucleotide position 428, causing the lysine (K) at amino acid position 143 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001043221 SCV001456494 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-01-24 no assertion criteria provided clinical testing

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