ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) (rs111033256)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169244 SCV000220521 likely pathogenic Pendred syndrome 2014-07-18 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724118 SCV000331645 pathogenic not provided 2016-07-15 criteria provided, single submitter clinical testing
Invitae RCV000724118 SCV000947211 pathogenic not provided 2018-12-18 criteria provided, single submitter clinical testing This sequence change replaces valine with aspartic acid at codon 239 of the SLC26A4 protein (p.Val239Asp). The valine residue is highly conserved and there is a large physicochemical difference between valine and aspartic acid. This variant is present in population databases (rs111033256, ExAC 0.2%). This variant has been observed in several individuals and families affected with SLC26A4-related conditions (PMID: 12974744, 16460646, 23770805, 25394566). ClinVar contains an entry for this variant (Variation ID: 43566). Experimental studies have shown that this missense change has a deleterious effect on protein function and localization (PMID: 16460646, 22116360). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036506 SCV000060161 pathogenic Rare genetic deafness 2008-09-19 no assertion criteria provided clinical testing
Hereditary Research Laboratory,Bethlehem University RCV000169244 SCV000538118 pathogenic Pendred syndrome 2016-06-04 no assertion criteria provided research Severe to Profound SNHL
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000169244 SCV001133020 likely pathogenic Pendred syndrome 2019-09-26 no assertion criteria provided clinical testing

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