ClinVar Miner

Submissions for variant NM_001288772.2(PIK3C2G):c.2489C>T (p.Ala830Val)

dbSNP: rs2499598727
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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 RCV004503852 SCV005006151 uncertain significance not specified 2023-10-14 criteria provided, single submitter clinical testing The c.2366C>T (p.A789V) alteration is located in exon 17 (coding exon 16) of the PIK3C2G gene. This alteration results from a C to T substitution at nucleotide position 2366, causing the alanine (A) at amino acid position 789 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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