ClinVar Miner

Submissions for variant NM_004998.4(MYO1E):c.2459G>A (p.Arg820Gln)

gnomAD frequency: 0.00052  dbSNP: rs188248622
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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 RCV001898999 SCV002172371 uncertain significance not provided 2022-06-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 820 of the MYO1E protein (p.Arg820Gln). This variant is present in population databases (rs188248622, gnomAD 0.04%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with MYO1E-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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 RCV002555359 SCV003530245 uncertain significance Inborn genetic diseases 2022-08-16 criteria provided, single submitter clinical testing The c.2459G>A (p.R820Q) alteration is located in exon 22 (coding exon 22) of the MYO1E gene. This alteration results from a G to A substitution at nucleotide position 2459, causing the arginine (R) at amino acid position 820 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006201 SCV005631230 likely benign Focal segmental glomerulosclerosis 6 2024-04-11 criteria provided, single submitter clinical testing

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