ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.1349T>C (p.Met450Thr)

gnomAD frequency: 0.00003  dbSNP: rs759775916
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653073 SCV000774947 uncertain significance DOCK2 deficiency 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 450 of the DOCK2 protein (p.Met450Thr). This variant is present in population databases (rs759775916, gnomAD 0.06%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 542613). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV003352977 SCV004064171 uncertain significance Inborn genetic diseases 2023-08-28 criteria provided, single submitter clinical testing The c.1349T>C (p.M450T) alteration is located in exon 14 (coding exon 14) of the DOCK2 gene. This alteration results from a T to C substitution at nucleotide position 1349, causing the methionine (M) at amino acid position 450 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect - Invitae Patient Insights Network RCV000653073 SCV004037486 not provided DOCK2 deficiency no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 08-18-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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