ClinVar Miner

Submissions for variant NM_002709.3(PPP1CB):c.493G>A (p.Asp165Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004596026 SCV005091014 likely pathogenic Noonan syndrome-like disorder with loose anagen hair 2 2023-10-18 criteria provided, single submitter clinical testing PS2, PM1, PM2 - Low frequency in gnomAD population databases. In silico prediction tools estimated that the variant could be damaging for the protein function/stracture. The variant was detected de-novo (paternity confirmed).

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