ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.704_705del (p.Glu235fs)

dbSNP: rs781097746
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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 RCV001226801 SCV001399127 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2019-11-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu235Valfs*4) in the ISPD gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs781097746, ExAC 0.002%). This variant has not been reported in the literature in individuals with ISPD-related conditions. Loss-of-function variants in ISPD are known to be pathogenic (PMID: 23288328). For these reasons, this variant has been classified as Pathogenic.

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