ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) (rs397516431)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036503 SCV000060158 uncertain significance not specified 2011-03-08 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Val233Leu v ariant in SLC26A4 has been reported as a compound heterozygous variant with anot her pathogenic variant in a Chinese proband with hearing loss and enlarged vesti bular aqueduct (EVA) and was absent in 200 race matched control chromosomes (Hu, 2007). However, it was not reported whether this variant was in trans with the second SLC26A4 variant. Furthermore, computational analyses (biochemical amino a cid properties, homology, PolyPhen, SIFT, AlignGVGD) do not provide strong suppo rt for or against pathogenicity. In summary, the clinical significance of this v ariant cannot be determined with certainty at this time.
Counsyl RCV000670566 SCV000795433 uncertain significance Pendred syndrome 2017-11-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000670566 SCV001455800 uncertain significance Pendred syndrome 2020-09-16 no assertion criteria provided clinical testing
Precision Medicine Center,Zhengzhou University RCV001375688 SCV001572609 likely pathogenic Deafness, autosomal recessive 4, with enlarged vestibular aqueduct no assertion criteria provided research GnomAD genomes East Asian allele frequency =0.001353>0.0007, not apply to PM2 PM3_Strong: Pathogenic mutation confirmed in trans in one patient and phase unknown in 4 patients PP3: REVEL score >0.7 PP4: Patient's phenotype highly specific for gene

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