ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) (rs1555051455)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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 Deafness, autosomal recessive 2; Usher syndrome type 1 2017-08-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik 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 Hearing impairment; Rod-cone dystrophy; Vestibular dysfunction 2019-03-12 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP3. This variant was detected in heterozygous state.

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