ClinVar Miner

Submissions for variant NM_001369623.2(PI4KB):c.1417G>A (p.Glu473Lys)

gnomAD frequency: 0.00005  dbSNP: rs367782946
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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 RCV004111187 SCV003578840 uncertain significance not specified 2021-09-14 criteria provided, single submitter clinical testing The c.1453G>A (p.E485K) alteration is located in exon 7 (coding exon 6) of the PI4KB gene. This alteration results from a G to A substitution at nucleotide position 1453, causing the glutamic acid (E) at amino acid position 485 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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