ClinVar Miner

Submissions for variant NM_001039029.3(LRTM2):c.664C>T (p.Arg222Cys)

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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 RCV004940480 SCV005615263 uncertain significance not specified 2024-12-10 criteria provided, single submitter clinical testing The c.664C>T (p.R222C) alteration is located in exon 5 (coding exon 3) of the LRTM2 gene. This alteration results from a C to T substitution at nucleotide position 664, causing the arginine (R) at amino acid position 222 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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