ClinVar Miner

Submissions for variant NM_032608.7(MYO18B):c.5915T>C (p.Ile1972Thr)

dbSNP: rs2146631078
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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 RCV001976273 SCV002264708 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing 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. 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: "Probably Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 1475479). This variant has not been reported in the literature in individuals affected with MYO18B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1972 of the MYO18B protein (p.Ile1972Thr).
GenomeConnect - Invitae Patient Insights Network RCV003483873 SCV004228837 not provided Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 06-14-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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