ClinVar Miner

Submissions for variant NM_000441.1(SLC26A4):c.1963A>G (p.Ile655Val) (rs397516424)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675129 SCV000800699 uncertain significance Pendred syndrome 2018-04-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036463 SCV000060118 likely pathogenic Enlarged vestibular aqueduct; Pendred syndrome 2011-07-26 criteria provided, single submitter clinical testing The Ile655Val variant in SLC26A4 has not been reported in the literature. Computational analyses (biochemical amino acid properties, homology, PolyPhen2, SIFT, AlignGVGD) do not provide strong support for or against pathogenicity. However, the presence of this variant in trans with a reported pathogenic variant and in two siblings with hearing loss, including one with known EVA and cochlea abnormalities, increases the likelihood that the Ile655Val variant is pathogenic. In summary, this variant is likely to be pathogenic.

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