ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2131G>A (p.Asp711Asn) (rs145805875)

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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 RCV000036474 SCV000060129 uncertain significance not specified 2011-08-31 criteria provided, single submitter clinical testing The Asp711Asn variant has not been reported in the literature nor previously ide ntified by our laboratory. This residue is well conserved across mammals and mos t vertebrates; however, it is replaced with glutamic acid in zebrafish. Computat ional analyses (amino acid properties, PolyPhen2, SIFT, AlignGVGD) provide incon sistent predictions on the impact of the variant. It should be noted that this l ab has only sequenced SLC26A4 in 44 Asian probands and no Asian healthy controls . In addition, healthy control information is limited in either public databases or scientific literature, such that the full spectrum of benign variation has n ot yet been defined for this population. Future analysis could reveal that the A sp711Asn variant is common in this population and therefore unlikely to be patho genic. In summary, the clinical significance of this variant is not clear at thi s time.
Counsyl RCV000668787 SCV000793443 uncertain significance Pendred syndrome 2017-08-16 criteria provided, single submitter clinical testing

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