ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.1120-1G>T

dbSNP: rs397515396
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000344890 SCV000340661 pathogenic not provided 2016-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000650387 SCV000772231 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2022-10-14 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 8 of the ISPD gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ISPD are known to be pathogenic (PMID: 23288328). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies have shown that disruption of this splice site affects ISPD function (PMID: 22522420). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 31561). Disruption of this splice site has been observed in individuals with Walker-Warburg syndrome (PMID: 22522420). This variant is not present in population databases (gnomAD no frequency).
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000024269 SCV004013413 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 2023-04-21 criteria provided, single submitter clinical testing PVS1, PS3, PM3_Supporting,
OMIM RCV000024269 SCV000045560 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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