ClinVar Miner

Submissions for variant NM_002578.5(PAK3):c.276+5G>A

dbSNP: rs1569398792
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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 RCV000721067 SCV000851952 likely pathogenic History of neurodevelopmental disorder 2013-05-23 criteria provided, single submitter clinical testing This variant was observed to be a likely the results of a de novo change or germline mosaicism in one family tested by our laboratory (current case). This variant has not been detected in conjunction with a pathogenic mutation to date. Allele frequency data in population-based cohorts is not currently available. This nucleotide position is completely conserved on sequence alignment.This splice prediction software does predict a deleterious effect on splicing.This splice prediction software does predict a deleterious effect on splicing.

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