ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4459_4464del (p.Ser1487_Leu1488del) (rs1555552158)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523648 SCV000619473 uncertain significance not provided 2018-02-07 criteria provided, single submitter clinical testing The c.4459_4464delTCCCTG variant of uncertain significance in the MYH11 gene has not been published as pathogenic or been reported as benign to our knowledge. This variant was not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.4459_4464delTCCCTG variant is predicted to result in an in-frame deletion of two amino acid residues, Serine and Leucine, at positions 1487_1488 in the MYH11 gene, denoted p.Ser1487_Leu1488del. In silico analysis is inconsistent in its predictions as to whether or not this variant is damaging to the protein structure/function. Thus, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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