ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4115C>T (p.Ser1372Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003985148 SCV004801440 likely pathogenic Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 2018-11-04 criteria provided, single submitter clinical testing The CACNA1A c.4118C>T p.(Ser1373Leu) missense variant has been identified in an individual with a phenotype consistent with neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (Byers et al. 2016). This variant is not observed in version 2.1.1 of the Genome Aggregation Database. The variant was identified in a de novo state in the proband. Based on the available evidence the c.4118C>T p.(Ser1373Leu) variant is classified as likely pathogenic for neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures.

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