ClinVar Miner

Submissions for variant NM_032608.7(MYO18B):c.5854A>G (p.Ile1952Val)

gnomAD frequency: 0.00011  dbSNP: rs202126120
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508926 SCV001715364 uncertain significance not provided 2019-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001508926 SCV003292651 uncertain significance not provided 2022-08-27 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 1952 of the MYO18B protein (p.Ile1952Val). This variant is present in population databases (rs202126120, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with MYO18B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1163671). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002568000 SCV003728809 uncertain significance Inborn genetic diseases 2024-07-09 criteria provided, single submitter clinical testing The c.5854A>G (p.I1952V) alteration is located in exon 38 (coding exon 37) of the MYO18B gene. This alteration results from a A to G substitution at nucleotide position 5854, causing the isoleucine (I) at amino acid position 1952 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003130533 SCV003817817 uncertain significance Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 2022-12-10 criteria provided, single submitter clinical testing

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