ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1630G>T (p.Gly544Cys)

dbSNP: rs72658134
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV001808941 SCV002058114 likely pathogenic Osteogenesis imperfecta, perinatal lethal 2022-01-11 no assertion criteria provided clinical testing The novel heterozygous mis-sense variant c.1630G>T (p.G544C) has not been observed in gnomAD and 1000g. In-silico bioinformatic software predict this variant by mutation taster as Disease causing and SIFT & PROVEAN as Damaging. Phenotype observed was narrow bell-shaped thorax, bowed long bones and broad metaphyses and diaphysis. Osteogenesis Imperfecta II is an autosomal dominant disorder. Based on the phenotypic observation we classify this variant as likely pathogenic.

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