ClinVar Miner

Submissions for variant NM_032608.7(MYO18B):c.2488A>G (p.Ile830Val)

gnomAD frequency: 0.00001  dbSNP: rs544705080
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001959551 SCV002252170 uncertain significance not provided 2022-07-19 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 830 of the MYO18B protein (p.Ile830Val). This variant is present in population databases (rs544705080, gnomAD 0.006%). 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: 1466618). 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: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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.
Revvity Omics, Revvity RCV003492715 SCV004236737 uncertain significance Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 2023-03-31 criteria provided, single submitter clinical testing

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