ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1874C>T (p.Ala625Val) (rs727505187)

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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 RCV000156677 SCV000206398 uncertain significance not specified 2014-07-24 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ala625Val varia nt in USH1C has not been previously reported in individuals with hearing loss or in large population studies. Alanine (Ala) at position 625 is not conserved in mammals or evolutionarily distant species and one mammal (gorilla) carries a val ine (Val), raising the possibility that this change may be tolerated. Additional computational prediction tools suggest that this variant may not impact the pro tein, though this information is not predictive enough to rule out pathogenicity . In summary, while the clinical significance of the Ala625Val variant is uncert ain, these data suggest that it is more likely to be benign.
Counsyl RCV000666926 SCV000791301 uncertain significance Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-10-04 criteria provided, single submitter clinical testing

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