ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro)

gnomAD frequency: 0.00001  dbSNP: rs1045933779
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667731 SCV000792227 likely pathogenic Pendred syndrome 2017-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001226428 SCV001398741 likely pathogenic not provided 2023-01-17 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SLC26A4 protein function. ClinVar contains an entry for this variant (Variation ID: 552468). This missense change has been observed in individuals with SLC26A4-related conditions (PMID: 20146813, 23336812, 23401162, 25394566). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 729 of the SLC26A4 protein (p.Leu729Pro).
Baylor Genetics RCV003472089 SCV004201879 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2023-08-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000667731 SCV002080027 likely pathogenic Pendred syndrome 2021-03-20 no assertion criteria provided clinical testing

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