ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.833del (p.Pro278fs)

dbSNP: rs886041787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000329353 SCV000330546 pathogenic not provided 2016-05-18 criteria provided, single submitter clinical testing The c.833delC pathogenic variant in the SRCAP gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.833delC variant causes a frameshift starting with codon Proline 278, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 102 of the new reading frame, denoted p.Pro278LeufsX102. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.833delC variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.833delC as a pathogenic variant.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001391086 SCV001477328 likely pathogenic Neurodevelopmental disorder 2021-01-10 no assertion criteria provided research

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