ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.873G>A (p.Ala291=) (rs138794621)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153466 SCV000202973 uncertain significance not provided 2018-01-25 criteria provided, single submitter clinical testing
Invitae RCV000533988 SCV000656963 uncertain significance 3 Methylcrotonyl-CoA carboxylase 1 deficiency 2017-03-23 criteria provided, single submitter clinical testing This sequence change affects codon 291  of the MCCC1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MCCC1 protein. This variant also falls at the last nucleotide of exon 8 of the MCCC1 coding sequence, which is part of the consensus splice site for this exon. This variant is present in population databases (rs138794621, ExAC 0.06%). This variant has been reported as heterozygous in an asymptomatic Spanish individual identified from newborn screening (PMID: 27601257). ClinVar contains an entry for this variant (Variation ID: 167271). Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001275511 SCV001460696 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-09-16 no assertion criteria provided clinical testing

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