ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser) (rs397516302)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756411 SCV000884215 uncertain significance not provided 2018-02-02 criteria provided, single submitter clinical testing The p.Arg120Ser variant (rs397516302) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) a frequency of 0.06 percent in the East Asian population (identified on 11 out of 18,826 chromosomes), and has been reported to the ClinVar database (Variation ID: 43213). The arginine at position 120 is moderately conserved considering 13 species (Alamut v2.10) and computational analyses of the effects of the p.Arg120Ser variant on protein structure and function provide conflicting results (SIFT: damaging, MutationTaster: disease causing, PolyPhen-2: benign). Altogether, there is not enough evidence to classify the p.Arg120Ser variant with certainty.
Counsyl RCV000665697 SCV000789859 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-02-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036117 SCV000059769 uncertain significance not specified 2011-09-12 criteria provided, single submitter clinical testing The Arg120Ser variant in MYO7A has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, homology, PolyPhen2, SIFT, AlignGVGD) do not provide strong suppo rt for or against pathogenicity. In summary, the clinical significance of this v ariant cannot be determined with certainty at this time. It should be noted that this lab has only sequenced MYO7A in 23 Asian probands and no Asian healthy con trols. In addition, healthy control information is limited in either public data bases or scientific literature, such that the full spectrum of benign variation has not yet been defined for this population. Future analysis could reveal that the Arg120Ser variant is common in this population and therefore unlikely to be pathogenic.

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