ClinVar Miner

Submissions for variant NC_000017.11:g.2665367T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences RCV003232907 SCV003929407 pathogenic Lissencephaly due to LIS1 mutation criteria provided, single submitter clinical testing The splice region variant NM_000430.4(PAFAH1B1):c.33-5T>C has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.33-5T>C variant is novel (not in any individuals) in 1kG All as well as in our in-house database. The c.33-5T>C variant is novel (not in any individuals) in gnomAD. Pathogenic computational verdict based on 1 pathogenic prediction from phyloP vs no benign predictions. Further, the clinical phenotype of the proband matches with that of the disorder caused by pathogenic variants in PAFAH1B1 gene. The variant was not found to be segregated in the parents confirming the De novo status of the variant. For these reasons, this variant has been classified as Likely Pathogenic.

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