ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) (rs397515398)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 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
Invitae RCV000688977 SCV000816610 pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 2018-12-31 criteria provided, single submitter clinical testing This variant, c.277_279delATT, results in the deletion of 1 amino acid of the ISPD protein (p.Ile93del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in several individuals affected with clinical features of Walker-Warburg syndrome (PMID: 2522420, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 31564). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000024272 SCV000045563 pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 2012-05-01 no assertion criteria provided literature only

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