ClinVar Miner

Submissions for variant NM_006371.5(CRTAP):c.655G>A (p.Gly219Ser)

gnomAD frequency: 0.00053  dbSNP: rs145048208
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000540867 SCV000641174 likely benign Osteogenesis imperfecta type 7 2025-01-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000540867 SCV001474503 uncertain significance Osteogenesis imperfecta type 7 2020-01-22 criteria provided, single submitter clinical testing The CRTAP c.655G>A; p.Gly219Ser variant (rs145048208) is reported in the literature in a single individual who was affected with osteogenesis imperfect who also harbored a pathogenic variant in COL1A1 that explained the phenotype (Árvai 2016). This variant is also reported in ClinVar (Variation ID: 465814) and is found in the general population with an allele frequency of 0.049% (139/282,882 alleles) in the Genome Aggregation Database. The glycine at codon 219 is highly conserved, but computational analyses (SIFT: tolerated, PolyPhen-2: probably damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of this variant is uncertain at this time.

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