ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.1601C>T (p.Thr534Met)

gnomAD frequency: 0.00015  dbSNP: rs141542114
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002266963 SCV000518835 uncertain significance not provided 2022-07-15 criteria provided, single submitter clinical testing Observed as heterozygous variant in individual with Charcot-Marie-Tooth disease (Volodarsky et al., 2021); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32376792)
Invitae RCV000863528 SCV001004210 likely benign Charcot-Marie-Tooth disease axonal type 2P 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000863528 SCV001328718 likely benign Charcot-Marie-Tooth disease axonal type 2P 2018-01-13 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174252 SCV001337382 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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