ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.2011C>T (p.Gln671Ter)

dbSNP: rs876661247
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000214671 SCV000279884 likely pathogenic not provided 2023-11-07 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, as the last 53 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Reported in an individual with Charcot-Marie-Tooth disease in published literature (PMID: 33414056); This variant is associated with the following publications: (PMID: 22781092, 33414056)

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