ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.874_886del (p.Glu292fs)

dbSNP: rs1554305719
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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 RCV000532194 SCV000652592 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2023-07-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ISPD-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 473159). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu292Asnfs*3) in the ISPD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ISPD are known to be pathogenic (PMID: 23288328).

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