ClinVar Miner

Submissions for variant NM_001039029.3(LRTM2):c.212G>A (p.Arg71Gln)

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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 RCV004636283 SCV005133047 uncertain significance not specified 2024-06-16 criteria provided, single submitter clinical testing The c.212G>A (p.R71Q) alteration is located in exon 4 (coding exon 2) of the LRTM2 gene. This alteration results from a G to A substitution at nucleotide position 212, causing the arginine (R) at amino acid position 71 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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