ClinVar Miner

Submissions for variant NM_004357.5(CD151):c.493C>T (p.Arg165Ter)

gnomAD frequency: 0.00001  dbSNP: rs759213580
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329864 SCV001521413 pathogenic Epidermolysis bullosa simplex 7, with nephropathy and deafness 2020-06-09 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001329864 SCV001746608 pathogenic Epidermolysis bullosa simplex 7, with nephropathy and deafness 2021-01-04 criteria provided, single submitter clinical testing
Invitae RCV002546356 SCV003009461 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 1028736). This variant has not been reported in the literature in individuals affected with CD151-related conditions. This variant is present in population databases (rs759213580, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg165*) in the CD151 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CD151 cause disease.
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV001329864 SCV004012070 pathogenic Epidermolysis bullosa simplex 7, with nephropathy and deafness 2020-06-09 no assertion criteria provided clinical testing

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