ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser) (rs201251963)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724089 SCV000229762 uncertain significance not provided 2016-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000724089 SCV000582556 uncertain significance not provided 2017-05-15 criteria provided, single submitter clinical testing The N1586S variant in the MYO7A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The N1586S variant is observed in 35/8566 (0.41%) alleles from individuals of East Asian background, including 1 homozygous individual, in the ExAC dataset (Lek et al., 2016). The N1586S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret N1586S as a variant of uncertain significance.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000177824 SCV000711161 likely benign not specified 2017-06-26 criteria provided, single submitter clinical testing p.Asn1586Ser variant in exon 35 of MYO7A: This variant is not expected to have c linical significance because it has been identified in 0.5% of East Asian chrom osomes including 1 homozygote by the genome Aggregation Database (gnomAD, http:/ /gnomad.broadinstitute.org; dbSNP rs201251963).
Invitae RCV000724089 SCV001048924 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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