ClinVar Miner

Submissions for variant NM_004947.5(DOCK3):c.1175G>A (p.Arg392Gln)

gnomAD frequency: 0.00071  dbSNP: rs199600118
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001531398 SCV001746476 uncertain significance not provided 2021-07-01 criteria provided, single submitter clinical testing
Mendelics RCV002246241 SCV002516990 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002570541 SCV003531971 uncertain significance Inborn genetic diseases 2022-08-11 criteria provided, single submitter clinical testing The c.1175G>A (p.R392Q) alteration is located in exon 14 (coding exon 14) of the DOCK3 gene. This alteration results from a G to A substitution at nucleotide position 1175, causing the arginine (R) at amino acid position 392 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
OMIM RCV001253774 SCV001429647 pathogenic Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 2020-08-13 no assertion criteria provided literature only

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