ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.973C>A (p.Leu325Met)

dbSNP: rs766343074
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848341 SCV002106222 uncertain significance Hereditary spastic paraplegia 2020-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002545268 SCV003536499 uncertain significance Inborn genetic diseases 2022-10-27 criteria provided, single submitter clinical testing The c.973C>A (p.L325M) alteration is located in exon 9 (coding exon 9) of the AP5Z1 gene. This alteration results from a C to A substitution at nucleotide position 973, causing the leucine (L) at amino acid position 325 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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