ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1597G>A (p.Ala533Thr) (rs201104489)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152549 SCV000201760 uncertain significance not specified 2014-11-07 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ala533Thr var iant in USH1C has not been previously reported in individuals with hearing loss, but has been identified in 0.8% (1/128) of Mexican ancestry chromosomes by the 1000 Genomes Project (dbSNP rs201104489). The Alanine (Ala) at position 533 is c onserved in mammals, but at least one mammal (orangutan) is reported to carry a Threonine (Thr) at this position, raising the possibility that this change may b e tolerated. Additional computational prediction tools do not provide strong sup port for or against an impact to the protein. In summary, while the clinical sig nificance of the p.Ala533Thr variant is uncertain, these data suggest that it is more likely to be benign.
Invitae RCV000939264 SCV001085104 likely benign not provided 2018-11-19 criteria provided, single submitter clinical testing

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