ClinVar Miner

Submissions for variant NM_052947.4(ALPK2):c.4153C>T (p.His1385Tyr)

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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 RCV004051785 SCV002632054 uncertain significance not specified 2024-12-03 criteria provided, single submitter clinical testing The c.4153C>T (p.H1385Y) alteration is located in exon 5 (coding exon 4) of the ALPK2 gene. This alteration results from a C to T substitution at nucleotide position 4153, causing the histidine (H) at amino acid position 1385 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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