ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.419T>C (p.Leu140Pro) (rs1085307958)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489648 SCV000577732 likely pathogenic not provided 2015-06-10 criteria provided, single submitter clinical testing The L140P variant in the BRAT1 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The L140P variant was not observed in approximately 6300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The L140P variant is a semi-conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The L140P variant is a strong candidate for a disease-causing variant, however the possibility it may be a rare benign variant cannot be excluded.
OMIM RCV000677132 SCV000803202 pathogenic Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 2018-08-02 no assertion criteria provided literature only
OMIM RCV000677133 SCV000803203 pathogenic Rigidity and multifocal seizure syndrome, lethal neonatal 2018-08-02 no assertion criteria provided literature only

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