ClinVar Miner

Submissions for variant NM_032122.5(DTNBP1):c.1019A>G (p.Glu340Gly)

gnomAD frequency: 0.00011  dbSNP: rs367543102
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002514508 SCV003696752 uncertain significance Inborn genetic diseases 2022-12-23 criteria provided, single submitter clinical testing The c.1019A>G (p.E340G) alteration is located in exon 10 (coding exon 10) of the DTNBP1 gene. This alteration results from a A to G substitution at nucleotide position 1019, causing the glutamic acid (E) at amino acid position 340 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Psychiatry Genetics Yale University RCV000084667 SCV000116803 not provided not provided no assertion provided not provided

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