ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.1037_1040del (p.Asn346fs)

dbSNP: rs1588121150
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988247 SCV001137898 uncertain significance Charcot-Marie-Tooth disease axonal type 2P 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000988247 SCV002243028 pathogenic Charcot-Marie-Tooth disease axonal type 2P 2023-04-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 802506). This variant has not been reported in the literature in individuals affected with LRSAM1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn346Argfs*10) in the LRSAM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LRSAM1 are known to be pathogenic (PMID: 20865121, 33414056). For these reasons, this variant has been classified as Pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000988247 SCV004808190 pathogenic Charcot-Marie-Tooth disease axonal type 2P 2024-03-29 criteria provided, single submitter clinical testing

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