ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.650C>T (p.Ser217Leu)

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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 RCV003589614 SCV004252757 uncertain significance DOCK2 deficiency 2023-01-17 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. This variant is present in population databases (rs755691445, gnomAD 0.07%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 217 of the DOCK2 protein (p.Ser217Leu).
Ambry Genetics RCV004366472 SCV004860264 uncertain significance Inborn genetic diseases 2024-01-31 criteria provided, single submitter clinical testing The c.650C>T (p.S217L) alteration is located in exon 8 (coding exon 8) of the DOCK2 gene. This alteration results from a C to T substitution at nucleotide position 650, causing the serine (S) at amino acid position 217 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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