ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile)

dbSNP: rs863224907
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000197764 SCV000255434 likely pathogenic Developmental and epileptic encephalopathy, 9 2014-08-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000197764 SCV003483948 uncertain significance Developmental and epileptic encephalopathy, 9 2023-08-10 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of developmental and epileptic encephalopathy (PMID: 25326637). ClinVar contains an entry for this variant (Variation ID: 216981). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces alanine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 153 of the PCDH19 protein (p.Ala153Ile).

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