ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln)

gnomAD frequency: 0.00011  dbSNP: rs544692790
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000710209 SCV000203513 uncertain significance not provided 2014-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000710209 SCV000242508 uncertain significance not provided 2018-04-24 criteria provided, single submitter clinical testing The Arg580Gln missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid substitution is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved through mammals but is not conserved in more distant species through evolution in the cytoplasmic loop between the first and second homologous domains. Multiple in silico algorithms predict it may be damaging to protein structure/function. Therefore, based on the currently available information, it is unclear whether Arg580Gln is a pathogenic variant or a rare benign variant.
Invitae RCV000471353 SCV000548756 likely benign Early infantile epileptic encephalopathy with suppression bursts 2021-11-30 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515440 SCV000611518 uncertain significance Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 2017-05-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710209 SCV000615025 likely benign not provided 2018-08-31 criteria provided, single submitter clinical testing

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