ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5528T>G (p.Leu1843Arg) (rs397516319)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036190 SCV000059842 uncertain significance not specified 2011-06-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Leu1843Arg variant in MYO7A has not been reported in the literature nor previously identifi ed by our laboratory. This residue is conserved across species and computational analyses (biochemical amino acid change, homology, PolyPhen2, SIFT) suggest tha t the Leu1843Arg variant may impact the protein. However, this information is no t predictive enough to assume pathogenicity. The presence of this variant in com bination with a pathogenic MYO7A variant and in an individual with clinical feat ures of hearing loss, increases the likelihood that the Leu1843Arg variant is pa thogenic. However, it should be noted that this lab has only sequenced MYO7A in 22 Black probands and no Black healthy controls. In addition, healthy control in formation is limited in either public databases or scientific literature, such t hat the full spectrum of benign variation has not yet been defined for this gene . Future analysis could reveal that the Leu1843Arg variant is common in this pop ulation and therefore unlikely to be pathogenic. In summary, the clinical signif icance of this variant cannot be determined with certainty at this time.

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