ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.399A>G (p.Glu133=)

gnomAD frequency: 0.00015  dbSNP: rs924931141
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000951371 SCV001820877 likely benign not provided 2020-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002066278 SCV002446510 likely benign Schuurs-Hoeijmakers syndrome 2024-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372651 SCV002625036 likely benign Inborn genetic diseases 2018-01-22 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.

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