ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7250G>T (p.Trp2417Leu)

gnomAD frequency: 0.00001  dbSNP: rs755614789
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001938080 SCV002186076 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-11-01 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COL12A1 protein function. ClinVar contains an entry for this variant (Variation ID: 1408545). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. This variant is present in population databases (rs755614789, gnomAD 0.0009%). This sequence change replaces tryptophan, which is neutral and slightly polar, with leucine, which is neutral and non-polar, at codon 2417 of the COL12A1 protein (p.Trp2417Leu).

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