ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.49C>T (p.Arg17Cys)

gnomAD frequency: 0.00002  dbSNP: rs770259167
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001364201 SCV001560336 uncertain significance Charcot-Marie-Tooth disease axonal type 2P 2023-09-21 criteria provided, single submitter clinical testing This variant is present in population databases (rs770259167, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 1055518). 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 expected to disrupt LRSAM1 protein function. 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. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 17 of the LRSAM1 protein (p.Arg17Cys).
Mayo Clinic Laboratories, Mayo Clinic RCV003481094 SCV004225097 uncertain significance not provided 2022-07-21 criteria provided, single submitter clinical testing

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