ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3705_3716del (p.Met1235_Ile1238del) (rs730880890)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158832 SCV000208767 likely pathogenic not provided 2014-07-29 criteria provided, single submitter clinical testing The c.3705_3716delGGAGCAGATCAT variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.3705_3716delGGAGCAGATCAT variant causes an in-frame deletion of four amino acid residues in the MYH7 gene. The c.3705_3716delGGAGCAGATCAT variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Other in-frame deletions (c.3300_3311delCGGCAGCCAGCT, c.3658_3660delGAG, c.4048_4050delGAG) have been reported in association with MYH7-related disorders. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded.

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