ClinVar Miner

Submissions for variant NM_002476.2(MYL4):c.136A>G (p.Ile46Val)

gnomAD frequency: 0.00004  dbSNP: rs140603047
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001326183 SCV001517201 uncertain significance Atrial fibrillation, familial, 18 2023-11-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 46 of the MYL4 protein (p.Ile46Val). This variant is present in population databases (rs140603047, gnomAD 0.01%). 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: 1025818). 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 RCV002546162 SCV003702287 uncertain significance Inborn genetic diseases 2022-03-16 criteria provided, single submitter clinical testing The c.136A>G (p.I46V) alteration is located in exon 3 (coding exon 2) of the MYL4 gene. This alteration results from a A to G substitution at nucleotide position 136, causing the isoleucine (I) at amino acid position 46 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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