ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.362G>A (p.Arg121His)

gnomAD frequency: 0.00001  dbSNP: rs143910539
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173645 SCV001336747 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508269 SCV001714316 uncertain significance not provided 2020-03-24 criteria provided, single submitter clinical testing
GeneDx RCV001508269 SCV002504079 likely benign not provided 2015-03-03 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Invitae RCV002557490 SCV003244576 uncertain significance Charcot-Marie-Tooth disease axonal type 2P 2024-01-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 121 of the LRSAM1 protein (p.Arg121His). This variant is present in population databases (rs143910539, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 32376792). ClinVar contains an entry for this variant (Variation ID: 917124). 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.

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