ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1036A>C (p.Ser346Arg)

dbSNP: rs2534051217
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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 RCV004417417 SCV004906165 uncertain significance Inborn genetic diseases 2024-02-21 criteria provided, single submitter clinical testing The c.1036A>C (p.S346R) alteration is located in exon 9 (coding exon 9) of the AP5Z1 gene. This alteration results from a A to C substitution at nucleotide position 1036, causing the serine (S) at amino acid position 346 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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