ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7583A>G (p.Asn2528Ser)

dbSNP: rs1168175119
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204846 SCV001376073 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-08-09 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C45"). ClinVar contains an entry for this variant (Variation ID: 936110). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 2528 of the COL12A1 protein (p.Asn2528Ser).

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