ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.2047-3C>T

dbSNP: rs1588144581
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002415973 SCV002726483 uncertain significance Inborn genetic diseases 2022-03-24 criteria provided, single submitter clinical testing The c.2047-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 24 in the LRSAM1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genesis Genome Database RCV000857217 SCV000999801 uncertain significance Charcot-Marie-Tooth disease type 4 2019-08-14 no assertion criteria provided research

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