ClinVar Miner

Submissions for variant NM_001288772.2(PIK3C2G):c.2516A>T (p.Asn839Ile)

dbSNP: rs1011605430
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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 RCV004172074 SCV003661338 uncertain significance not specified 2022-11-19 criteria provided, single submitter clinical testing The c.2393A>T (p.N798I) alteration is located in exon 18 (coding exon 17) of the PIK3C2G gene. This alteration results from a A to T substitution at nucleotide position 2393, causing the asparagine (N) at amino acid position 798 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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