ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn)

gnomAD frequency: 0.00001  dbSNP: rs754984293
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000702037 SCV000830865 likely benign Osteogenesis imperfecta type I 2023-11-15 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002060881 SCV002496064 uncertain significance Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2021-10-21 criteria provided, single submitter clinical testing COL1A1 NM_000088.3 exon 49 p.Asp1332Asn (c.3994G>A):This variant has not been reported in the literature but is present in 0.002% (2/68046) of European alleles in the Genome Aggregation Database (hhttps://gnomad.broadinstitute.org/variant/17-50186328-C-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:578894). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Ambry Genetics RCV002369933 SCV002625647 uncertain significance Cardiovascular phenotype 2021-01-27 criteria provided, single submitter clinical testing The p.D1332N variant (also known as c.3994G>A), located in coding exon 49 of the COL1A1 gene, results from a G to A substitution at nucleotide position 3994. The aspartic acid at codon 1332 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV004588143 SCV005078463 uncertain significance not provided 2024-02-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD)

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