ClinVar Miner

Submissions for variant NM_152309.3(PIK3AP1):c.1621G>A (p.Ala541Thr)

gnomAD frequency: 0.00004  dbSNP: rs367613610
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001403721 SCV001605599 likely benign Infantile spasms 2023-05-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037991 SCV003982918 uncertain significance not specified 2023-03-22 criteria provided, single submitter clinical testing The c.1621G>A (p.A541T) alteration is located in exon 10 (coding exon 10) of the PIK3AP1 gene. This alteration results from a G to A substitution at nucleotide position 1621, causing the alanine (A) at amino acid position 541 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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