ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.337C>A (p.Pro113Thr)

dbSNP: rs794726711
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000180815 SCV000221777 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
GeneDx RCV000188831 SCV000242460 pathogenic not provided 2017-07-13 criteria provided, single submitter clinical testing p.Pro113Thr (CCC>ACC): c.337 C>A in exon 2 of the SCN1A gene (NM_001165963.1) The Pro113Thr missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a non-conservative amino acid substitution of a non-polar Proline residue with a polar Threonine residue and the loss of a Proline may affect the secondary structure of the SCN1A protein. Pro113Thr alters a highly conserved position in the N-terminal region of the protein and multiple missense mutations at nearby codons have been reported in association with an SCN1A-related disorder. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, Pro113Thr is a strong candidate for a disease-causing mutation. This variant has been observed de novo without verified parentage. The variant is found in INFANT-EPI panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV000636365 SCV000757804 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2021-08-28 criteria provided, single submitter clinical testing

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