ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) (rs72552027)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000171049 SCV000223613 likely benign not specified 2017-10-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000254455 SCV000318519 likely benign Cardiovascular phenotype 2017-10-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000171049 SCV000340537 likely benign not specified 2016-04-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001080647 SCV000411507 likely benign Brugada syndrome 5 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000299875 SCV000411508 likely benign Generalized epilepsy with febrile seizures plus, type 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics Inc RCV000171049 SCV000615049 uncertain significance not specified 2016-12-15 criteria provided, single submitter clinical testing
Invitae RCV001080647 SCV000647856 benign Brugada syndrome 5 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588361 SCV000700047 likely benign not provided 2016-06-17 criteria provided, single submitter clinical testing Variant summary: The SCN1B c.28G>A (p.Gly10Ser) variant involves the alteration of a non-conserved nucleotide, is not located in a known functional domain, and 2/4 in silico tools predict a benign outcome (SNPs&GO not captured due to low reliability index). This variant was found in 16/5008 control chromosomes, predominantly observed in the African subpopulation (16/1322 African alleles from 1000G; 0.01210). This frequency is significantly greater than the estimated maximal expected allele frequency of a pathogenic SCN1B variant (0.00001), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. However, the site is covered in fewer than 80% of the individuals in ExAC, which may indicate a low-quality site. The variant was identified in one SIDS case (also found in healthy African American adult control) and one LQTS patient without evidence of causality (i.e. co-segregation). In addition, one clinical diagnostic laboratory classified this variant as a VUS. Taken together and based on the allele frequency in the African subpopulation, this variant is classified as Likely Benign until additional information is available.
Ambry Genetics RCV000717687 SCV000848543 likely benign Seizures 2018-12-14 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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