ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1624C>A (p.Pro542Thr)

gnomAD frequency: 0.00001  dbSNP: rs769038223
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002291845 SCV002583925 uncertain significance not provided 2022-04-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003097799 SCV003581843 uncertain significance Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing The c.1624C>A (p.P542T) alteration is located in exon 15 (coding exon 14) of the SLC26A4 gene. This alteration results from a C to A substitution at nucleotide position 1624, causing the proline (P) at amino acid position 542 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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