ClinVar Miner

Submissions for variant NM_015426.5(POC1A):c.893G>A (p.Trp298Ter)

dbSNP: rs2107090748
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252548 SCV002523837 likely pathogenic See cases 2019-05-27 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2
PreventionGenetics, part of Exact Sciences RCV003403757 SCV004111033 likely pathogenic POC1A-related disorder 2023-04-05 criteria provided, single submitter clinical testing The POC1A c.893G>A variant is predicted to result in premature protein termination (p.Trp298*). This variant has been reported in a single affected individual in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/1690956/). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in POC1A are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005025741 SCV005662614 likely pathogenic Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 2024-03-06 criteria provided, single submitter clinical testing

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