Submissions for variant NM_001371279.1(REEP1):c.512del (p.Pro171fs)

dbSNP: rs387906263

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000001936	SCV000553161	pathogenic	Hereditary spastic paraplegia 31	2022-09-01	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant results in an extension of the REEP1 protein. Other variant(s) that result in a similarly extended protein product (p.Pro172Hisfs*51) have been determined to be pathogenic (Invitae). This suggests that these extensions are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1859). This variant is also known as c.507delC. This frameshift has been observed in individual(s) with hereditary spastic paraplegia (PMID: 16826527, 30637453). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the REEP1 gene (p.Pro171Hisfs*52). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 31 amino acid(s) of the REEP1 protein and extend the protein by 20 additional amino acid residues.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	RCV000001936	SCV000778432	pathogenic	Hereditary spastic paraplegia 31	2017-05-17	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847562	SCV002104924	pathogenic	Hereditary spastic paraplegia	2019-05-17	criteria provided, single submitter	clinical testing
OMIM	RCV000001936	SCV000022094	pathogenic	Hereditary spastic paraplegia 31	2006-08-01	no assertion criteria provided	literature only