ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.2087G>A (p.Cys696Tyr)

dbSNP: rs1588144651
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791810 SCV000931073 uncertain significance Charcot-Marie-Tooth disease axonal type 2P 2022-08-06 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 696 of the LRSAM1 protein (p.Cys696Tyr). This variant is not present in population databases (gnomAD no frequency). 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: 639095). This missense change has been observed in individuals with clinical features of autosomal dominant Charcot-Marie-Tooth disease (PMID: 32376792; Invitae).
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173639 SCV001336741 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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