ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr)

gnomAD frequency: 0.00033  dbSNP: rs148332041
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001047402 SCV001211359 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 569 of the MCCC1 protein (p.Asn569Tyr). This variant is present in population databases (rs148332041, gnomAD 0.1%). 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: 844531). 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: "Benign"; Align-GVGD: "Class C25"). 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.
Elsea Laboratory, Baylor College of Medicine RCV001047402 SCV001424263 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002552620 SCV003747415 uncertain significance Inborn genetic diseases 2021-05-26 criteria provided, single submitter clinical testing The c.1705A>T (p.N569Y) alteration is located in exon 15 (coding exon 15) of the MCCC1 gene. This alteration results from a A to T substitution at nucleotide position 1705, causing the asparagine (N) at amino acid position 569 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001047402 SCV001456487 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-03-10 no assertion criteria provided clinical testing

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