ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.688G>A (p.Val230Ile)

gnomAD frequency: 0.00036  dbSNP: rs144884904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000640874 SCV000762478 likely benign X-linked lymphoproliferative disease due to XIAP deficiency 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025613 SCV004980411 uncertain significance Inborn genetic diseases 2022-09-06 criteria provided, single submitter clinical testing The c.688G>A (p.V230I) alteration is located in exon 2 (coding exon 1) of the XIAP gene. This alteration results from a G to A substitution at nucleotide position 688, causing the valine (V) at amino acid position 230 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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