ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.517del (p.Arg173fs)

dbSNP: rs2136056222
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001385006 SCV001584713 pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-07-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1072319). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ITGA7-related conditions. This sequence change creates a premature translational stop signal (p.Arg173Glyfs*56) in the ITGA7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ITGA7 are known to be pathogenic (PMID: 9590299). This variant is not present in population databases (gnomAD no frequency).

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