ClinVar Miner

Submissions for variant NM_198586.3(NHLRC1):c.602T>C (p.Phe201Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Recherche et de Formation en Génétique Médicale et en Neurosciences, Université des Sciences, des Techniques et des Technologies de Bamako RCV004701244 SCV005200387 likely pathogenic Lafora disease 2024-08-30 no assertion criteria provided case-control PP3 (Strong): MetaRNN = 0.978 is greater than 0.939 ⇒ strong pathogenic PM2 (Supporting): variant not found in gnomAD genomes, good gnomAD genomes coverage = 32.3. Variant not found in gnomAD exomes, good gnomAD exomes coverage = 83.6. PP1 (Supporting): Cosegregation with phenotype in multiple affected family members in gene NHLRC1 which is associated with Apraxia, Ataxia, Atonic Seizure, Atypical Absence Seizure, Bilateral Tonic-Clonic Seizure and 36 more, according to ClinGen Disease Validity, GenCC, Mondo and PanelApp. PP2 (Supporting): 28 out of 29 non-VUS missense variants in gene NHLRC1 are pathogenic = 96.6% which is more than threshold of 80.8%.

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