ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2056G>A (p.Gly686Ser)

dbSNP: rs1404470949
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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 RCV001822978 SCV002072471 likely pathogenic Osteogenesis imperfecta, perinatal lethal 2022-01-30 no assertion criteria provided clinical testing The novel heterozygous mis-sense variant c.2056G>A (p.G686S) 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. The phenotype observed in the proband was short long bones of upper and lower bones, cloverleaf skull, low set ears, narrow thorax, bowed bilateral femurs and fractures with callus formation in middle of bones and osteopenic ribs. Osteogenesis Imperfecta type II is an autosomal dominant disorder. Based on the phenotypic observation, we classify this variant as likely pathogenic.

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