ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.1514C>T (p.Ser505Leu)

gnomAD frequency: 0.00004  dbSNP: rs146106537
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705307 SCV000293068 likely benign not provided 2019-01-07 criteria provided, single submitter clinical testing
Invitae RCV001294857 SCV001483752 uncertain significance Charcot-Marie-Tooth disease axonal type 2P 2023-09-04 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 505 of the LRSAM1 protein (p.Ser505Leu). This variant is present in population databases (rs146106537, gnomAD 0.01%). 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: 245886). 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. 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.
Ambry Genetics RCV002392727 SCV002709813 uncertain significance Inborn genetic diseases 2022-03-08 criteria provided, single submitter clinical testing The p.S505L variant (also known as c.1514C>T), located in coding exon 19 of the LRSAM1 gene, results from a C to T substitution at nucleotide position 1514. The serine at codon 505 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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