ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4339G>A (p.Ala1447Thr)

gnomAD frequency: 0.00002  dbSNP: rs535676910
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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 RCV000992581 SCV001144983 likely benign not provided 2019-06-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002550641 SCV003547563 uncertain significance Inborn genetic diseases 2022-08-02 criteria provided, single submitter clinical testing The c.4339G>A (p.A1447T) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 4339, causing the alanine (A) at amino acid position 1447 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003936254 SCV004753294 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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