ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.2027_2033del (p.Val676fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002508857 SCV002818114 likely pathogenic Charcot-Marie-Tooth disease axonal type 2P 2023-01-05 criteria provided, single submitter clinical testing The variant c.2027_2033del (p.(Val676Alafs*8)) in exon 24 of the LRSAM1 gene is not found in the gnomAD database and it creates a frame shift starting at codon Val676. The new reading frame ends in a STOP codon at position 8. Truncating variants at the rear end of exon 24 and in exon 25 of the LRSAM1 are associated with the autosomal dominant form of CMT2P (PMID: 33414056). ACMG criteria used for classification: PVS1_strg, PM2.

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