ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5787-4707del (rs747392139)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000852383 SCV000994586 uncertain significance not provided 2018-09-14 criteria provided, single submitter clinical testing The c.5819delC variant in the MYH11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.5819delC variant causes a frameshift starting with codon Proline 1940, changes this amino acid to a Histidine residue, and creates a Stop codon at position 91 of the new reading frame, denoted p.Pro1940HisfsX91. This frameshift variant replaces the typical last 6 amino acid residues in the MYH11 protein with 90 different amino acid residues. This alteration may interfere with the proper formation and/or function of the MYH11 protein. The c.5819delC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.5819delC as a variant of uncertain significance.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000771021 SCV000902442 likely pathogenic Chronic intestinal pseudoobstruction 2019-05-07 no assertion criteria provided clinical testing The c.5819del variation creates a frame shift starting at codon Pro1940. The new reading frame ends in a STOP codon at position 91. This variant was detected in seven members of single family affected with Chronic Intestinal Pseudoobstructionwith (CIPO). Three unaffected members of this family did not carry the variant.

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