ClinVar Miner

Submissions for variant NM_001099404.1(SCN5A):c.6007G>A (p.Asp2003Asn) (rs376697724)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638660 SCV000760199 uncertain significance Brugada syndrome 2020-08-29 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 2003 of the SCN5A protein (p.Asp2003Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs376697724, ExAC 0.02%). This variant has been reported in a sudden unexplained death case (PMID: 26164358), as well an an unaffected control individual in a Brugada syndrome study (PMID: 25904541). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). 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.
Baylor Genetics RCV001329633 SCV001521126 uncertain significance Atrial fibrillation, familial, 10 2019-10-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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