ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4184del (p.Pro1395fs)

dbSNP: rs794727760
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179137 SCV000231337 pathogenic not provided 2015-02-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003398899 SCV004110144 likely pathogenic COL5A1-related disorder 2024-08-27 no assertion criteria provided clinical testing The COL5A1 c.4184delC variant is predicted to result in a frameshift and premature protein termination (p.Pro1395Glnfs*93). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Frameshift variants in COL5A1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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