ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.103T>A (p.Tyr35Asn) (rs1574077431)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001352073 SCV001546598 uncertain significance Spastic paraplegia 31, autosomal dominant 2020-08-09 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with asparagine at codon 35 of the REEP1 protein (p.Tyr35Asn). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with REEP1-related conditions (PMID: 24604904). ClinVar contains an entry for this variant (Variation ID: 637850). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). 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.
Inherited Neuropathy Consortium RCV000790185 SCV000929576 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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