ClinVar Miner

Submissions for variant NM_002576.5(PAK1):c.379G>A (p.Val127Met)

dbSNP: rs2137081902
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001565123 SCV001788402 pathogenic not provided 2023-04-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001565123 SCV003027798 uncertain significance not provided 2022-07-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PAK1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 127 of the PAK1 protein (p.Val127Met). ClinVar contains an entry for this variant (Variation ID: 1200189). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GenomeConnect, ClinGen RCV001825000 SCV002074968 not provided Intellectual developmental disorder with macrocephaly, seizures, and speech delay no assertion provided phenotyping only Variant interpreted as Likely pathogenic and reported on 08-17-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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