ClinVar Miner

Submissions for variant NM_174912.4(FAAH2):c.781G>C (p.Gly261Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003430562 SCV004166956 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing FAAH2: BP4, BS2
Ambry Genetics RCV004364649 SCV004867260 uncertain significance not specified 2021-10-26 criteria provided, single submitter clinical testing The c.781G>C (p.G261R) alteration is located in exon 6 (coding exon 6) of the FAAH2 gene. This alteration results from a G to C substitution at nucleotide position 781, causing the glycine (G) at amino acid position 261 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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