ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4882G>A (p.Asp1628Asn)

gnomAD frequency: 0.00001  dbSNP: rs1004398583
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001327712 SCV001518798 uncertain significance Hyperkalemic periodic paralysis 2022-05-18 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1628 of the SCN4A protein (p.Asp1628Asn). This variant is present in population databases (no rsID available, gnomAD 0.009%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 1027155). This variant has not been reported in the literature in individuals affected with SCN4A-related conditions.
Ambry Genetics RCV003263964 SCV003948192 uncertain significance Inborn genetic diseases 2023-04-13 criteria provided, single submitter clinical testing The c.4882G>A (p.D1628N) alteration is located in exon 24 (coding exon 24) of the SCN4A gene. This alteration results from a G to A substitution at nucleotide position 4882, causing the aspartic acid (D) at amino acid position 1628 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005014433 SCV005649637 uncertain significance Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16; Congenital myopathy 22A, classic; Congenital myopathy 22B, severe fetal 2024-01-30 criteria provided, single submitter clinical testing

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