ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6403A>T (p.Lys2135Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002308351 SCV002602046 likely pathogenic Usher syndrome type 1 2022-03-15 criteria provided, single submitter clinical testing NM_000260.3(MYO7A):c.6403A>T(K2135*) is expected to be pathogenic in the context of MYO7A-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in MYO7A, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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