ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6079_6081del (p.His2027del)

dbSNP: rs1957839812
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001918179 SCV002178947 uncertain significance not provided 2023-12-25 criteria provided, single submitter clinical testing This variant, c.6079_6081del, results in the deletion of 1 amino acid(s) of the MYO7A protein (p.His2027del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Usher syndrome (PMID: 26864046). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1406933). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV005006204 SCV005629487 likely pathogenic Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2024-05-04 criteria provided, single submitter clinical testing

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