ClinVar Miner

Submissions for variant NM_018713.3(SLC30A10):c.413C>G (p.Ala138Gly)

gnomAD frequency: 0.00003  dbSNP: rs1001337733
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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 RCV002939619 SCV003663595 uncertain significance Inborn genetic diseases 2022-11-10 criteria provided, single submitter clinical testing The c.413C>G (p.A138G) alteration is located in exon 1 (coding exon 1) of the SLC30A10 gene. This alteration results from a C to G substitution at nucleotide position 413, causing the alanine (A) at amino acid position 138 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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