ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2831G>A (p.Arg944His)

gnomAD frequency: 0.00001  dbSNP: rs761988412
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002459 SCV001160402 uncertain significance Ehlers-Danlos syndrome, classic type, 2 2019-04-07 criteria provided, single submitter clinical testing The COL5A2c.2831G>A; p.Arg944His variant (rs761988412), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The arginine at codon 944 is highly conserved, but computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Arg944His variant is uncertain at this time.
GeneDx RCV001585909 SCV001820043 uncertain significance not provided 2023-06-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002549179 SCV003450104 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-10-14 criteria provided, single submitter clinical testing

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