ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1541G>C (p.Gly514Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287356 SCV001474031 likely pathogenic none provided 2020-03-11 criteria provided, single submitter clinical testing The COL1A2 c.1541G>C; p.Gly514Ala variant, to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The glycine at codon 514 is highly conserved, and this variant disrupts the repeating Gly-X-Y sequence motif of the collagen triple helix and is predicted to impair collagen function (Ben Amor 2011). Additionally, another amino acid substitution at this codon (p.Gly514Val) has been reported in an individual with osteogenesis imperfect type II and is considered disease-causing (Maioli 2019). Based on available information, the p.Gly514Ala variant is considered to be likely pathogenic. References: Ben Amor I et al. Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta. J Osteoporos. 2011; 2011:540178. Maioli M et al. Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients. Eur J Hum Genet. 2019 Jul;27(7):1090-1100.

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