ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1628T>C (p.Met543Thr)

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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 RCV004961687 SCV005459516 uncertain significance Inborn genetic diseases 2024-09-11 criteria provided, single submitter clinical testing The c.1628T>C (p.M543T) alteration is located in exon 13 (coding exon 13) of the AP5Z1 gene. This alteration results from a T to C substitution at nucleotide position 1628, causing the methionine (M) at amino acid position 543 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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