ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.550C>T (p.Arg184Ter)

gnomAD frequency: 0.00001  dbSNP: rs370499190
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390079 SCV001591689 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2024-01-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg184*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with clinical features of ISPD-related conditions (PMID: 22522420, 34485198). ClinVar contains an entry for this variant (Variation ID: 1076250). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001780375 SCV002023181 pathogenic not provided 2019-08-28 criteria provided, single submitter clinical testing

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