ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn)

gnomAD frequency: 0.00004  dbSNP: rs1005244744
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480520 SCV000571284 uncertain significance not provided 2022-02-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; HGMD); This variant is associated with the following publications: (PMID: 22696272)
Labcorp Genetics (formerly Invitae), Labcorp RCV001333205 SCV001394362 benign Ehlers-Danlos syndrome, classic type, 1 2024-06-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV001333205 SCV001525722 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2018-09-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV003431044 SCV004117926 uncertain significance COL5A1-related disorder 2023-04-24 criteria provided, single submitter clinical testing The COL5A1 c.5311G>A variant is predicted to result in the amino acid substitution p.Asp1771Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0050% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-137726991-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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