ClinVar Miner

Submissions for variant NM_001395252.1(OR51B5):c.502C>T (p.His168Tyr)

gnomAD frequency: 0.00002  dbSNP: rs767661897
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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 RCV004090746 SCV003554648 uncertain significance not specified 2022-08-08 criteria provided, single submitter clinical testing The c.502C>T (p.H168Y) alteration is located in exon 1 (coding exon 1) of the OR51B5 gene. This alteration results from a C to T substitution at nucleotide position 502, causing the histidine (H) at amino acid position 168 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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