ClinVar Miner

Submissions for variant NM_001288772.2(PIK3C2G):c.1071A>C (p.Lys357Asn)

dbSNP: rs762493710
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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 RCV004176981 SCV003673594 uncertain significance not specified 2022-12-01 criteria provided, single submitter clinical testing The c.1071A>C (p.K357N) alteration is located in exon 6 (coding exon 5) of the PIK3C2G gene. This alteration results from a A to C substitution at nucleotide position 1071, causing the lysine (K) at amino acid position 357 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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