ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.5617G>C (p.Asp1873His)

gnomAD frequency: 0.00001  dbSNP: rs2537469688
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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 RCV002836028 SCV003611287 uncertain significance Inborn genetic diseases 2022-04-13 criteria provided, single submitter clinical testing The c.5617G>C (p.D1873H) alteration is located in exon 44 (coding exon 44) of the DOCK8 gene. This alteration results from a G to C substitution at nucleotide position 5617, causing the aspartic acid (D) at amino acid position 1873 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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