ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.258-1G>C (rs767978961)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000330073 SCV000341900 pathogenic not provided 2016-05-24 criteria provided, single submitter clinical testing
Invitae RCV000548174 SCV000652579 likely pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 2017-09-01 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 1 of the ISPD gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs767978961, ExAC 0.01%) but has not been reported in the literature in individuals with a ISPD-related disease. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in ISPD are known to be pathogenic (PMID: 22522421). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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