ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn)

gnomAD frequency: 0.00007  dbSNP: rs199802059
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198241 SCV000249980 uncertain significance not provided 2023-03-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign in association with a connective tissue disorder to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28213671)
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659485 SCV000781300 uncertain significance Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV002515352 SCV000816163 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453715 SCV002616134 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-09-13 criteria provided, single submitter clinical testing The p.D1129N variant (also known as c.3385G>A), located in coding exon 48 of the COL5A2 gene, results from a G to A substitution at nucleotide position 3385. The aspartic acid at codon 1129 is replaced by asparagine, an amino acid with highly similar properties. This alteration was reported in a cohort of subjects with Smith-Magenis-like syndrome who underwent whole exome sequencing (Berger SI et al. Hum Genet, 2017 04;136:409-420). This amino acid position is highly 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.

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