ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.763C>A (p.His255Asn)

dbSNP: rs952365421
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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 RCV002032081 SCV002313329 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-04-10 criteria provided, single submitter clinical testing 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with 3-methylcrotonyl-CoA carboxylase (3MCC) deficiency (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with asparagine at codon 255 of the MCCC1 protein (p.His255Asn). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and asparagine.
Revvity Omics, Revvity RCV002032081 SCV003810804 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2023-09-08 criteria provided, single submitter clinical testing

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