ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.2662T>C (p.Phe888Leu)

dbSNP: rs866956533
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003657499 SCV002205342 uncertain significance not provided 2023-10-09 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 888 of the SCN5A protein (p.Phe888Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SCN5A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1429091). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002458831 SCV002739491 uncertain significance Cardiovascular phenotype 2021-03-23 criteria provided, single submitter clinical testing The c.2662T>C (p.F888L) alteration is located in exon 16 (coding exon 15) of the SCN5A gene. This alteration results from a T to C substitution at nucleotide position 2662, causing the phenylalanine (F) at amino acid position 888 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003225755 SCV003808032 uncertain significance Atrial fibrillation, familial, 10 2022-11-18 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PP3 supporting

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