ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter)

dbSNP: rs1466219701
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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 RCV000813269 SCV000953621 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2022-02-04 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with cobblestone lissencephaly (PMID: 23217329). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 656769). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser258*) 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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