ClinVar Miner

Submissions for variant NM_170682.4(P2RX2):c.1363G>A (p.Glu455Lys)

gnomAD frequency: 0.00020  dbSNP: rs199955493
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000606884 SCV000713315 likely benign not specified 2017-06-28 criteria provided, single submitter clinical testing p.Glu481Lys in exon 10B of P2RX2: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, at least 3 mammals have a lysine (Lys) at this position. In addition, com putational prediction tools do not suggest a high likelihood of impact to the pr otein. It has also been identified in 0.1% (20/34408) of Latino chromosomes by t he Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs199955493).
GeneDx RCV000992498 SCV000722378 likely benign not provided 2020-09-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000992498 SCV001144861 benign not provided 2019-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000992498 SCV002189119 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000606884 SCV003614166 uncertain significance not specified 2021-07-09 criteria provided, single submitter clinical testing The c.1441G>A (p.E481K) alteration is located in exon 10 (coding exon 10) of the P2RX2 gene. This alteration results from a G to A substitution at nucleotide position 1441, causing the glutamic acid (E) at amino acid position 481 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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