ClinVar Miner

Submissions for variant NM_001039029.3(LRTM2):c.102G>T (p.Glu34Asp)

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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 RCV004640140 SCV005133049 uncertain significance not specified 2024-05-08 criteria provided, single submitter clinical testing The c.102G>T (p.E34D) alteration is located in exon 4 (coding exon 2) of the LRTM2 gene. This alteration results from a G to T substitution at nucleotide position 102, causing the glutamic acid (E) at amino acid position 34 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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