ClinVar Miner

Submissions for variant NM_018429.3(BDP1):c.2788G>A (p.Glu930Lys)

gnomAD frequency: 0.00116  dbSNP: rs200304584
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000843135 SCV000985168 likely benign not provided 2020-08-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004601294 SCV005098527 uncertain significance not specified 2024-06-16 criteria provided, single submitter clinical testing The c.2788G>A (p.E930K) alteration is located in exon 17 (coding exon 17) of the BDP1 gene. This alteration results from a G to A substitution at nucleotide position 2788, causing the glutamic acid (E) at amino acid position 930 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000843135 SCV005222774 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003938202 SCV004751162 likely benign BDP1-related disorder 2023-11-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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