ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.79_80del (p.Thr27fs)

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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 RCV002770214 SCV003029098 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2022-05-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr27Glyfs*88) 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). This variant is not present in population databases (gnomAD no frequency). 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.

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