ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.148del (p.His50fs)

dbSNP: rs2052800289
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001327419 SCV001518494 pathogenic not provided 2021-12-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 995439). This variant has not been reported in the literature in individuals affected with SRCAP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His50Thrfs*2) in the SRCAP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SRCAP are known to be pathogenic (PMID: 33909990).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001391090 SCV001477332 likely pathogenic Neurodevelopmental disorder 2021-01-10 no assertion criteria provided research

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