ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2120G>C (p.Arg707Pro)

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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 RCV001089550 SCV001244761 uncertain significance Deafness, autosomal recessive 2 2018-06-26 criteria provided, single submitter clinical testing A heterozygous missense variant, NM_000260.3(MYO7A):c.2120G>C, has been identified in exon 18 of 49 of the MYO7A gene. The variant is predicted to result in a major amino acid change from arginine to proline at position 707 of the protein (NP_000251.3(MYO7A):p.(Arg707Pro)). The arginine residue at this position has moderate conservation (100 vertebrates, UCSC), and is located within the Myosin head (motor) functional domain. In silico predictions of pathogenicity for this variant are conflicting (Polyphen, SIFT, CADD, Mutation Taster). The variant is present in the gnomAD database at a frequency of 0.0004% (1 heterozygote, 0 homozygotes). The variant has previously been described as a Variant of Unknown Siginificance (VUS; Deafness Variation Database). A different variant in the same codon resulting in a change to cysteine has also been reported as a VUS and a change to histidine has been reported as Likely Benign (Deafness Variation Database). Based on the information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS).

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