ClinVar Miner

Submissions for variant NM_002709.3(PPP1CB):c.434T>A (p.Ile145Asn)

dbSNP: rs2148051984
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001795598 SCV002034824 uncertain significance Noonan syndrome-like disorder with loose anagen hair 2 2021-07-16 criteria provided, single submitter clinical testing The PPP1CB c.434T>A (p.Ile145Asn) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequencing coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Ile145Asn variant is classified as a variant of uncertain significance for Noonan syndrome-like disorder with loose anagen hair.

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