ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1833_1838dup (p.Gln613_Phe614insHisSer) (rs397516290)

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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 RCV000036063 SCV000059715 likely pathogenic Rare genetic deafness 2012-05-14 criteria provided, single submitter clinical testing The Ser612_Gln613insHisSer variant (MYO7A) has not been reported in the literatu re nor previously reported by our laboratory. This variant results in an in-fram e insertion of two amino acids (Histidine and Serine) between position 612 and 6 13. Although more information is needed to fully assess the clinical significanc e of the Ser612_Gln613insHisSer variant, the addition of two amino acids is like ly to deleteriously impact protein function. This assumption, along with the ide ntification of this variant in a patient with Usher syndrome and another pathoge nic variant suggests this variant is likely pathogenic.

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