ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.3436_3437dup (p.Val1147fs)

dbSNP: rs1924597176
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001303253 SCV001492493 uncertain significance Developmental and epileptic encephalopathy, 9 2021-06-16 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with clinical features of early infantile epileptic encephalopathy (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the PCDH19 gene (p.Val1147Serfs*50). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2 amino acids of the PCDH19 protein and extend the protein by an additional 47 amino acids.

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