ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8178G>A (p.Arg2726=)

dbSNP: rs1768547356
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001221446 SCV001393493 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-08-10 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 949867). This variant has been observed in individual(s) with clinical features of autosomal dominant COL12A1-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 2726 of the COL12A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL12A1 protein. This variant also falls at the last nucleotide of exon 53, which is part of the consensus splice site for this exon.

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