ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter)

dbSNP: rs782468194
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673801 SCV000799045 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2018-04-03 criteria provided, single submitter clinical testing
Invitae RCV001855603 SCV002158229 pathogenic not provided 2023-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1100*) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 557635). For these reasons, this variant has been classified as Pathogenic.

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