ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.277_279del (p.Ile93del)

gnomAD frequency: 0.00005  dbSNP: rs397515398
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000300802 SCV000340809 uncertain significance not provided 2016-04-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000503716 SCV000595269 likely pathogenic Muscular dystrophy-dystroglycanopathy 2016-06-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000688977 SCV000816610 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2023-12-12 criteria provided, single submitter clinical testing This variant, c.277_279del, results in the deletion of 1 amino acid(s) of the ISPD protein (p.Ile93del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs397515398, gnomAD 0.008%). This variant has been observed in individual(s) with clinical features of Walker-Warburg syndrome (PMID: 2522420; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 31564). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000300802 SCV002016722 likely pathogenic not provided 2022-04-07 criteria provided, single submitter clinical testing
OMIM RCV000024272 SCV000045563 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 2012-05-01 no assertion criteria provided literature only

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