ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.1772C>T (p.Ala591Val)

gnomAD frequency: 0.00009  dbSNP: rs139344911
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000527280 SCV000477226 uncertain significance Charcot-Marie-Tooth disease axonal type 2P 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000527280 SCV000652025 likely benign Charcot-Marie-Tooth disease axonal type 2P 2023-09-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402086 SCV002713911 uncertain significance Inborn genetic diseases 2020-07-21 criteria provided, single submitter clinical testing The p.A591V variant (also known as c.1772C>T), located in coding exon 21 of the LRSAM1 gene, results from a C to T substitution at nucleotide position 1772. The alanine at codon 591 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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