ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.1760G>A (p.Arg587Gln)

gnomAD frequency: 0.00004  dbSNP: rs201700614
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001590038 SCV001824872 likely benign not provided 2020-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002579476 SCV003214937 uncertain significance Schuurs-Hoeijmakers syndrome 2024-12-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 587 of the PACS1 protein (p.Arg587Gln). This variant is present in population databases (rs201700614, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PACS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1217779). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt PACS1 protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV003246993 SCV003964407 likely benign Inborn genetic diseases 2023-04-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001590038 SCV004010084 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing PACS1: BP4

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