ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5422_5436del (p.Pro1808_Glu1812del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV001089551 SCV001244762 uncertain significance Deafness, autosomal recessive 2 2018-08-06 criteria provided, single submitter clinical testing A homozygous inframe deletion variant, NM_000260.3(MYO7A):c.5422_5436del, has been identified in exon 39 of 49 of the MYO7A gene. The variant is predicted to result in an inframe deletion offive amino acids at position 1808_1812 of the protein (NP_000251.3:p.(Pro1808_Glu1812del)). The residues at this position have high conservation (100 vertebrates, UCSC), and are located within the MyTH4conserved domain. The variant is absent in population databases (gnomAD, dbSNP, 1000G) and has not been previously reported in clinical cases. A missense variant within the deleted region has beenreported in twosiblings with hearing loss (Riahi, Z. et al. (2015)). Based on the information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS) with POTENTIAL CLINICAL RELEVANCE.

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