ClinVar Miner

Submissions for variant NM_133496.5(SLC30A7):c.278A>G (p.Asn93Ser)

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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 RCV004683680 SCV005166791 uncertain significance not specified 2024-04-24 criteria provided, single submitter clinical testing The c.278A>G (p.N93S) alteration is located in exon 3 (coding exon 3) of the SLC30A7 gene. This alteration results from a A to G substitution at nucleotide position 278, causing the asparagine (N) at amino acid position 93 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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