ClinVar Miner

Submissions for variant NM_138691.3(TMC1):c.2002A>G (p.Ser668Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Precision Medicine Center,Zhengzhou University RCV001328470 SCV001519390 likely pathogenic Deafness, autosomal recessive 7 no assertion criteria provided clinical testing the proband carries a TMC1 c.2002A>G homozygous variant, and both parents are carriers (ACMG PM3_supporting). The variant is absent in the ExAC and gnomAD database (ACMG PM2). In vitro functional tests showed that c.2002A>G affected splicing (ACMG PS3_moderate). As described above, the TMC1 c.2002A>G and c.2004T>G variants are two variants at the same amino acid, and the c.2004T>G variant was rated as likely pathogenic (ACMG PM5). Therefore, according to the ACMG genetic variation classification criteria and guidelines, the TMC1 c.2002A>G variant was rated as likely pathogenic

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