ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.71G>C (p.Ser24Thr)

gnomAD frequency: 0.00005  dbSNP: rs762409158
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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 RCV001325208 SCV001516193 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2022-05-17 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 24 of the MCCC1 protein (p.Ser24Thr). This variant is present in population databases (rs762409158, gnomAD 0.007%). 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: 1024958). 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 tolerated. 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 RCV004035151 SCV004903539 uncertain significance Inborn genetic diseases 2024-02-28 criteria provided, single submitter clinical testing The c.71G>C (p.S24T) alteration is located in exon 1 (coding exon 1) of the MCCC1 gene. This alteration results from a G to C substitution at nucleotide position 71, causing the serine (S) at amino acid position 24 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001325208 SCV002079131 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-12-03 no assertion criteria provided clinical testing

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