ClinVar Miner

Submissions for variant NM_014908.4(DOLK):c.671A>T (p.Asp224Val)

gnomAD frequency: 0.00074  dbSNP: rs17485436
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000213468 SCV000270160 likely benign not specified 2016-03-22 criteria provided, single submitter clinical testing p.Asp224Val in exon 1 of DOLK: This variant is not expected to have clinical sig nificance because it has been identified in 0.3% (32/10394) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs17485436).
GeneDx RCV000767057 SCV000583119 likely benign not provided 2020-10-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported as a likely benign variant in ClinVar but additional evidence is not available (SCV000270160.2, SCV000761345.1; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Invitae RCV001086824 SCV000761345 likely benign DK1-congenital disorder of glycosylation 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363061 SCV002666809 uncertain significance Cardiovascular phenotype 2023-04-29 criteria provided, single submitter clinical testing The p.D224V variant (also known as c.671A>T), located in coding exon 1 of the DOLK gene, results from an A to T substitution at nucleotide position 671. The aspartic acid at codon 224 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000213468 SCV004813062 uncertain significance not specified 2024-02-19 criteria provided, single submitter clinical testing

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