ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.392C>T (p.Thr131Ile)

gnomAD frequency: 0.00004  dbSNP: rs772202137
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Total submissions: 3
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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 axonal type 2P 2023-11-17 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 131 of the LRSAM1 protein (p.Thr131Ile). This variant is present in population databases (rs772202137, gnomAD 0.009%). This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 32376792). ClinVar contains an entry for this variant (Variation ID: 540007). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LRSAM1 protein function with a negative predictive value of 80%. 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.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173635 SCV001336737 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001534151 SCV001751052 likely benign not provided 2020-11-11 criteria provided, single submitter clinical testing

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