ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.537C>T (p.Ser179=)

gnomAD frequency: 0.00005  dbSNP: rs201564869
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001412970 SCV001615072 likely benign Hereditary spastic paraplegia 31 2024-05-09 criteria provided, single submitter clinical testing
Breda Genetics srl RCV001727851 SCV001976518 uncertain significance Hereditary spastic paraplegia 31; Neuronopathy, distal hereditary motor, type 5B 2021-05-18 criteria provided, single submitter clinical testing Based on allele frequency, in-silico prediction scores and a certain overlap with the clinical phenotype, we interpreted this variant at least as of uncertain significance. The lack of one or more of the following features has discouraged further investigations: lack of a possible second hit in autosomal recessive conditions, presence of healthy controls in databases for autosomal dominant conditions, presence of unmatching cardinal clinical features in the patient or in the known gene-disease association, and/or variant type outside the known gene mutational spectrum.

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