ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.2047-1G>A (rs1564287793)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000034318 SCV000813858 uncertain significance Charcot-Marie-Tooth disease type 2P 2018-02-08 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in the last intron (intron 24) of the LRSAM1 gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with Charcot-Marie-Tooth disease, type 2 in a large family (PMID: 22781092, 28286897). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this splice acceptor change results in a truncated protein (PMID: 22781092). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000034318 SCV000058269 pathogenic Charcot-Marie-Tooth disease type 2P 2013-02-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789359 SCV000928714 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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