ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.392C>T (p.Thr131Ile) (rs772202137)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649921 SCV000771757 uncertain significance Charcot-Marie-Tooth disease type 2P 2018-08-16 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 131 of the LRSAM1 protein (p.Thr131Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs772202137, ExAC 0.02%). This variant has not been reported in the literature in individuals with LRSAM1-related disease. ClinVar contains an entry for this variant (Variation ID: 540007). 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: "Probably 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.

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