ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.32+1G>T

dbSNP: rs1681105619
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001267968 SCV001446507 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Solve-RD Consortium RCV004769985 SCV005091562 likely pathogenic Hereditary spastic paraplegia 31 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team
PreventionGenetics, part of Exact Sciences RCV004731114 SCV005339677 likely pathogenic REEP1-related disorder 2024-04-05 no assertion criteria provided clinical testing The REEP1 c.32+1G>T variant is predicted to disrupt the GT donor site and interfere with normal splicing. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Variants that disrupt the consensus splice donor site in REEP1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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