ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.4532G>C (p.Gly1511Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV003225627 SCV003921818 uncertain significance Ullrich congenital muscular dystrophy 1A 2023-07-17 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as VUS-3B. Following criteria are met: 0103 - Dominant negative and loss of function are known mechanisms of disease in this gene. Dominant negative is associated with autosomal dominant disease due to missense variants affecting a glycine residue within a Gly-X-Y triple helical repeat while loss of function is associated with recessive disease due to other missense and protein-truncating variants (OMIM, PMID: 20301676). (I) 0108 - This gene is associated with both recessive and dominant disease. This gene is associated with autosomal recessive dystonia 27 (MIM#616411) and autosomal recessive and dominant Bethlem myopathy 1 (MIM#158810) and Ullrich congenital muscular dystrophy 1 (MIM#254090). (I) 0200 - Variant is predicted to result in a missense amino acid change from glycine to alanine. (I) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0309 - An alternative amino acid change at the same position has been observed in gnomAD (v2) (1 heterozygote, 0 homozygotes). (I) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools or highly conserved with a major amino acid change. (SP) 0600 - Variant is located in the annotated VWFA domain (UniProt). (I) 0705 - No comparable missense variants have previous evidence for pathogenicity. (I) 0807 - This variant has no previous evidence of pathogenicity. (I) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1205 - This variant has been shown to be maternally inherited (by trio analysis). (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign

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