ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.2374C>T (p.Arg792Ter)

dbSNP: rs121912933
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276558 SCV002565693 pathogenic Ehlers-Danlos syndrome 2021-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000018731 SCV004295614 pathogenic Ehlers-Danlos syndrome, classic type, 1 2023-06-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 17191). This premature translational stop signal has been observed in individual(s) with Ehlers-Danlos syndrome (PMID: 10777716, 31829210). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg792*) in the COL5A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL5A1 are known to be pathogenic (PMID: 23587214).
OMIM RCV000018731 SCV000039014 pathogenic Ehlers-Danlos syndrome, classic type, 1 2000-06-01 no assertion criteria provided literature only

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