ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.2062C>A (p.Leu688Ile)

gnomAD frequency: 0.00003  dbSNP: rs765956865
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476960 SCV000547852 likely benign Charcot-Marie-Tooth disease axonal type 2P 2023-02-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418378 SCV002725135 uncertain significance Inborn genetic diseases 2020-02-14 criteria provided, single submitter clinical testing The p.L688I variant (also known as c.2062C>A), located in coding exon 24 of the LRSAM1 gene, results from a C to A substitution at nucleotide position 2062. The leucine at codon 688 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on population data from Genome Aggregation Consortium (gnomAD), the p.L688I variant has an overall frequency of 0.02116% (59/278788 total alleles studied) without any homozygous individuals observed. The highest observed sub-population frequency was 0.1616% (57/35264 total alleles studied) in the Latino cochort. Therefore, this variant is considered to be likely benign for dominantly inherited LRSAM1-related neuropathy but is still rare enough to potentially be disease causing for recessively inherited LRSAM1-related neuropathy. Since supporting evidence for recessive neuropathy is limited at this time, the clinical significance of this alteration remains unclear.

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