ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1765C>T (p.Pro589Ser)

gnomAD frequency: 0.00001  dbSNP: rs544303636
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002241521 SCV001413312 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-10-05 criteria provided, single submitter clinical testing
GeneDx RCV001555022 SCV001776369 uncertain significance not provided 2020-09-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 965835; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276669 SCV002565807 uncertain significance Ehlers-Danlos syndrome 2018-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003398996 SCV004105769 uncertain significance COL5A2-related condition 2023-03-24 criteria provided, single submitter clinical testing The COL5A2 c.1765C>T variant is predicted to result in the amino acid substitution p.Pro589Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-189928711-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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