ClinVar Miner

Submissions for variant NM_001039029.3(LRTM2):c.409C>T (p.Arg137Trp)

gnomAD frequency: 0.00005  dbSNP: rs140500468
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004408105 SCV004900469 uncertain significance not specified 2023-09-29 criteria provided, single submitter clinical testing The c.409C>T (p.R137W) alteration is located in exon 4 (coding exon 2) of the LRTM2 gene. This alteration results from a C to T substitution at nucleotide position 409, causing the arginine (R) at amino acid position 137 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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