ClinVar Miner

Submissions for variant NM_004947.5(DOCK3):c.3887A>G (p.Lys1296Arg)

gnomAD frequency: 0.00021  dbSNP: rs201184598
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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 RCV001531569 SCV001746764 uncertain significance not provided 2021-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001253773 SCV002794170 uncertain significance Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 2021-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002570540 SCV003734970 uncertain significance Inborn genetic diseases 2022-09-26 criteria provided, single submitter clinical testing The c.3887A>G (p.K1296R) alteration is located in exon 38 (coding exon 38) of the DOCK3 gene. This alteration results from a A to G substitution at nucleotide position 3887, causing the lysine (K) at amino acid position 1296 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
OMIM RCV001253773 SCV001429646 pathogenic Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 2020-08-12 no assertion criteria provided literature only

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