ClinVar Miner

Submissions for variant NM_001379110.1(SLC9A6):c.1777C>G (p.Gln593Glu)

dbSNP: rs2521484199
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003234357 SCV003930635 uncertain significance not provided 2022-12-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003274362 SCV003974413 uncertain significance Inborn genetic diseases 2023-05-03 criteria provided, single submitter clinical testing The c.1747C>G (p.Q583E) alteration is located in exon 16 (coding exon 16) of the SLC9A6 gene. This alteration results from a C to G substitution at nucleotide position 1747, causing the glutamine (Q) at amino acid position 583 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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