ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.2364C>T (p.Ile788=) (rs183177363)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611822 SCV000721440 likely benign not specified 2017-07-21 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.
Integrated Genetics/Laboratory Corporation of America RCV000611822 SCV000920186 uncertain significance not specified 2018-09-03 criteria provided, single submitter clinical testing Variant summary: SCN5A c.2364C>T alters a non-conserved nucleotide resulting in a synonymous change. 4/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2.4e-05 in 246208 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.2364C>T has been reported in the literature, however, the report(s) do not provide unequivocal conclusions about association of the variant with Arrhythmia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000552956 SCV000637105 likely benign Brugada syndrome 2017-12-26 criteria provided, single submitter clinical testing

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