ClinVar Miner

Submissions for variant NM_002476.2(MYL4):c.277G>A (p.Glu93Lys)

gnomAD frequency: 0.00006  dbSNP: rs369894969
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542607 SCV000656674 uncertain significance Atrial fibrillation, familial, 18 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 93 of the MYL4 protein (p.Glu93Lys). This variant is present in population databases (rs369894969, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with MYL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 476201). 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 disruptive. 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 RCV002526730 SCV003725780 uncertain significance Inborn genetic diseases 2022-11-21 criteria provided, single submitter clinical testing The c.277G>A (p.E93K) alteration is located in exon 4 (coding exon 3) of the MYL4 gene. This alteration results from a G to A substitution at nucleotide position 277, causing the glutamic acid (E) at amino acid position 93 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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