ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.4357-10G>A

gnomAD frequency: 0.00001  dbSNP: rs374066994
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002539632 SCV003033588 uncertain significance not provided 2022-09-15 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1255529). This variant has not been reported in the literature in individuals affected with MYH3-related conditions. This variant is present in population databases (rs374066994, gnomAD 0.004%). This sequence change falls in intron 31 of the MYH3 gene. It does not directly change the encoded amino acid sequence of the MYH3 protein.
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV001661470 SCV001876857 likely pathogenic MYH3-related disorder 2021-01-01 no assertion criteria provided research

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