ClinVar Miner

Submissions for variant NM_001384125.1(BLTP1):c.2902C>T (p.Arg968Cys)

dbSNP: rs1051597475
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755963 SCV001987317 likely pathogenic not provided 2023-08-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis suggests that this missense variant does not alter protein structure/function, but splice predictors indicate that the variant may lead to abnormal gene splicing; This variant is associated with the following publications: (PMID: 29290337)
OMIM RCV000576899 SCV000678303 pathogenic Alkuraya-Kucinskas syndrome 2018-01-11 no assertion criteria provided literature only

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