ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.898G>A (p.Val300Ile) (rs199473088)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000058860 SCV001207720 uncertain significance Brugada syndrome 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 300 of the SCN5A protein (p.Val300Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs199473088, ExAC 0.002%). This variant has been observed in an individual affected with suspected Brugada syndrome who also had a splice donor variant in SCN5A (PMID: 20129283). ClinVar contains an entry for this variant (Variation ID: 68056). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV001188177 SCV001355166 likely benign Arrhythmia 2019-01-10 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058860 SCV000090380 not provided Brugada syndrome no assertion provided literature only This variant has been reported as associated with Brugada syndrome in the following publications (PMID:20129283). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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