ClinVar Miner

Submissions for variant NM_001004434.3(SLC30A2):c.76G>A (p.Glu26Lys)

dbSNP: rs2522698871
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002813642 SCV003606425 uncertain significance Inborn genetic diseases 2022-02-11 criteria provided, single submitter clinical testing The c.76G>A (p.E26K) alteration is located in exon 2 (coding exon 2) of the SLC30A2 gene. This alteration results from a G to A substitution at nucleotide position 76, causing the glutamic acid (E) at amino acid position 26 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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