ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.194A>G (p.Tyr65Cys)

dbSNP: rs1553461508
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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 RCV000554008 SCV000641181 uncertain significance Hereditary spastic paraplegia 31 2022-10-09 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 465819). This missense change has been observed in individual(s) with clinical features of REEP1-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 65 of the REEP1 protein (p.Tyr65Cys).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848943 SCV002104915 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing

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