ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5194T>G (p.Ser1732Ala)

dbSNP: rs750726658
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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 RCV001320670 SCV001511465 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2020-09-11 criteria provided, single submitter clinical testing This sequence change replaces serine with alanine at codon 1732 of the COL12A1 protein (p.Ser1732Ala). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and alanine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with COL12A1-related conditions. This variant is not present in population databases (ExAC no frequency).
GenomeConnect, ClinGen RCV001320670 SCV002075005 not provided Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 09-29-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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