ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3812_3823del (p.Asn1271_Thr1274del) (rs1555337023)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598623 SCV000710024 likely pathogenic not provided 2017-12-08 criteria provided, single submitter clinical testing A c.3812_3823del12 variant that is likely pathogenic was identified in the MYH7 gene. This variant has not been published as pathogenic or been reported as benign to our knowledge. However, this variant has been identified as apparently de novo in a patient with fetal cardiomyopathy previously tested at GeneDx. The c.3812_3823del12 variant is not observed in large population cohorts (Lek et al., 2016). This variant results in an in-frame deletion of four amino acid residues from asparagine 1271 to threonine 1274, denoted as p.Asn1271_Thr1274del. This deletion occurs in a region that is conserved in mammals. Furthermore, multiple other in-frame deletions in the MYH7 gene have been reported in the Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014).

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