ClinVar Miner

Submissions for variant NM_003386.3(ZAN):c.1550A>G (p.Asn517Ser)

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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 RCV004176588 SCV003661427 uncertain significance not specified 2022-11-30 criteria provided, single submitter clinical testing The c.1550A>G (p.N517S) alteration is located in exon 13 (coding exon 12) of the ZAN gene. This alteration results from a A to G substitution at nucleotide position 1550, causing the asparagine (N) at amino acid position 517 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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