ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.1714C>T (p.Arg572Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049097 SCV001213131 uncertain significance Charcot-Marie-Tooth disease type 2P 2020-10-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 572 of the LRSAM1 protein (p.Arg572Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (Invitae). 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: Deleterious; PolyPhen-2: Benign; Align-GVGD: Class C1). 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. 5
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173641 SCV001336743 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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