ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) (rs41298759)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000765019 SCV000896203 uncertain significance Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome, type 1 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290561 SCV000374515 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347824 SCV000374516 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386123 SCV000374517 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155244 SCV000204930 uncertain significance not specified 2013-10-17 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ala2083Thr vari ant in MYO7A has not been reported in individuals with hearing loss, but has bee n identified in 0.02% (2/8572) of European American chromosomes by the NHLBI Exo me Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs41298759). Com putational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Ala2083Thr variant may not impact the pro tein, though this information is not predictive enough to rule out pathogenicity . In summary, the clinical significance of this variant cannot be determined wit h certainty; however based upon the computational data, we would lean towards a more likely benign role.

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