ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.567del (p.Ser190fs)

dbSNP: rs2104051526
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002036563 SCV002315420 uncertain significance Hereditary spastic paraplegia 31 2023-06-17 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1523171). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with REEP1-related conditions. This sequence change results in a frameshift in the REEP1 gene (p.Ser190Valfs*33). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 12 amino acid(s) of the REEP1 protein and extend the protein by 20 additional amino acid residues.

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