ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3148G>A (p.Glu1050Lys)

gnomAD frequency: 0.00001  dbSNP: rs572950870
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992572 SCV001144971 likely benign not provided 2019-06-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002549799 SCV003555503 uncertain significance Inborn genetic diseases 2022-08-02 criteria provided, single submitter clinical testing The c.3148G>A (p.E1050K) alteration is located in exon 13 (coding exon 13) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 3148, causing the glutamic acid (E) at amino acid position 1050 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003936253 SCV004756446 likely benign PKD1-related disorder 2020-02-24 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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