ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter)

dbSNP: rs1555051455
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000610416 SCV000710843 pathogenic Rare genetic deafness 2016-06-07 criteria provided, single submitter clinical testing The p.Gln18X variant in MYO7A has been reported in the homozygous or compound he terozygous state in 2 individuals with Usher syndrome type 1 (Zhou 2012, Yoshimu ra 2013). The variant segregated with disease in three family members and was ab sent from control populations. This nonsense variant leads to a premature termin ation codon at position 18, which is predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathoge nic for Usher syndrome in an autosomal recessive manner.
Counsyl RCV000668877 SCV000793550 pathogenic Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-08-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001090420 SCV001245963 pathogenic not provided 2017-02-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198157 SCV001369000 pathogenic Autosomal dominant nonsyndromic hearing loss 11 2019-03-12 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2. This variant was detected in homozygous state.
Labcorp Genetics (formerly Invitae), Labcorp RCV001090420 SCV001582054 pathogenic not provided 2023-08-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 504505). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individuals with Usher syndrome (PMID: 22690115, 23237960). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln18*) 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).
Natera, Inc. RCV001834916 SCV002093096 pathogenic Usher syndrome type 1B 2020-10-20 no assertion criteria provided clinical testing

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