ClinVar Miner

Submissions for variant NM_007332.3(TRPA1):c.763A>G (p.Ile255Val)

gnomAD frequency: 0.00018  dbSNP: rs199550426
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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 RCV001815971 SCV002063200 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing TRPA1: BP4, BS1
Ambry Genetics RCV004040955 SCV004970121 uncertain significance not specified 2022-10-03 criteria provided, single submitter clinical testing The c.763A>G (p.I255V) alteration is located in exon 6 (coding exon 6) of the TRPA1 gene. This alteration results from a A to G substitution at nucleotide position 763, causing the isoleucine (I) at amino acid position 255 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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