ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5570C>T (p.Thr1857Ile)

gnomAD frequency: 0.00001  dbSNP: rs1239883407
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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 RCV002050882 SCV002116605 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-06-08 criteria provided, single submitter clinical testing 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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 threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1857 of the COL12A1 protein (p.Thr1857Ile). 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.
Revvity Omics, Revvity RCV003146254 SCV003833304 uncertain significance not provided 2022-11-23 criteria provided, single submitter clinical testing

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