ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.2843G>A (p.Arg948Gln)

gnomAD frequency: 0.00001  dbSNP: rs574551567
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755544 SCV002005090 uncertain significance not provided 2019-08-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the Y position is not a common mechanism of disease (Symoens et al., 2012; Stenson et al., 2014)
Fulgent Genetics, Fulgent Genetics RCV002478001 SCV002792717 uncertain significance Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 2021-10-07 criteria provided, single submitter clinical testing

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