ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4831A>C (p.Ile1611Leu)

gnomAD frequency: 0.00001  dbSNP: rs754447923
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199952 SCV000249918 uncertain significance not provided 2014-10-13 criteria provided, single submitter clinical testing The V1602M variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI Exome Sequencing Project (and the 1000 Genomes Project) reports V1602M was observed in 1/978 alleles from individuals of Southeast Asian background, indicating it may be a rare (benign) variant in this population. The V1602M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across evolution, and M1602 is present in several species. As a result, in silico analysis predicts this variant likely does not alter the protein structure/function. Furthermore, no missense mutations in nearby residues have been reported in association with Ehlers-Danlos syndrome, indicating that this region of the protein may be tolerant of change. Morevoer, the V1602M variant does not affect a Glycine residue in a Gly-X-Y motif in the triple helical region of the COL5A1 gene, where the majority of missense mutations occur (Symoens et al., 2012). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.This variant was found in TAAD
MGZ Medical Genetics Center RCV002288797 SCV002581452 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2022-03-14 criteria provided, single submitter clinical testing
Invitae RCV002288797 SCV002957190 likely benign Ehlers-Danlos syndrome, classic type, 1 2022-10-26 criteria provided, single submitter clinical testing

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