ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser) (rs727505247)

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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 RCV000156767 SCV000206488 uncertain significance not specified 2014-09-15 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Pro608Ser varia nt in USH1C has not been previously reported in individuals with hearing loss, a nd data from large population studies is insufficient to assess the frequency of this variant. Proline (Pro) at position 608 is not conserved in evolutionarily distant species, raising the possibility that a change at this position may be t olerated. Additional computational prediction tools suggest that the Pro608Ser v ariant may not impact the protein, though this information is not predictive eno ugh to rule out pathogenicity. In summary, while the clinical significance of th e Pro608Ser variant is uncertain, these data suggest that it is more likely to b e benign.
Counsyl RCV000666097 SCV000790338 likely benign Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-03-15 criteria provided, single submitter clinical testing

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