ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.563C>T (p.Pro188Leu)

gnomAD frequency: 0.00009  dbSNP: rs138830549
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544706 SCV000652035 uncertain significance Charcot-Marie-Tooth disease axonal type 2P 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 188 of the LRSAM1 protein (p.Pro188Leu). This variant is present in population databases (rs138830549, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with LRSAM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 472803). 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 with a positive 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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