ClinVar Miner

Submissions for variant NM_003386.3(ZAN):c.4920G>T (p.Arg1640Ser)

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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 RCV004081685 SCV003528138 uncertain significance not specified 2021-08-02 criteria provided, single submitter clinical testing The c.4920G>T (p.R1640S) alteration is located in exon 26 (coding exon 25) of the ZAN gene. This alteration results from a G to T substitution at nucleotide position 4920, causing the arginine (R) at amino acid position 1640 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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