ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.4724G>A (p.Arg1575Lys)

gnomAD frequency: 0.00121  dbSNP: rs141252560
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005092611 SCV001022108 likely benign not provided 2025-01-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000879098 SCV001527707 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2018-04-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV002251528 SCV002522109 uncertain significance not provided 2022-05-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004027922 SCV004859257 uncertain significance Inborn genetic diseases 2023-11-17 criteria provided, single submitter clinical testing The c.4724G>A (p.R1575K) alteration is located in exon 37 (coding exon 37) of the DOCK8 gene. This alteration results from a G to A substitution at nucleotide position 4724, causing the arginine (R) at amino acid position 1575 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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