ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8351C>T (p.Pro2784Leu)

dbSNP: rs997353607
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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 RCV001067752 SCV001232827 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-02-11 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 861265). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2784 of the COL12A1 protein (p.Pro2784Leu).
Revvity Omics, Revvity RCV003145334 SCV003831186 uncertain significance not provided 2020-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004977987 SCV005557958 uncertain significance Inborn genetic diseases 2024-10-06 criteria provided, single submitter clinical testing The c.8351C>T (p.P2784L) alteration is located in exon 56 (coding exon 55) of the COL12A1 gene. This alteration results from a C to T substitution at nucleotide position 8351, causing the proline (P) at amino acid position 2784 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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