ClinVar Miner

Submissions for variant NM_001033080.1(TAAR2):c.349A>G (p.Lys117Glu)

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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 RCV004681888 SCV005165547 uncertain significance not specified 2024-05-30 criteria provided, single submitter clinical testing The c.349A>G (p.K117E) alteration is located in exon 2 (coding exon 2) of the TAAR2 gene. This alteration results from a A to G substitution at nucleotide position 349, causing the lysine (K) at amino acid position 117 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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