ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5252C>T (p.Thr1751Ile)

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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 RCV005391674 SCV006045321 uncertain significance Inborn genetic diseases 2024-12-15 criteria provided, single submitter clinical testing The c.5252C>T (p.T1751I) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a C to T substitution at nucleotide position 5252, causing the threonine (T) at amino acid position 1751 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005399466 SCV006055021 likely benign Polycystic kidney disease, adult type 2022-07-15 criteria provided, single submitter clinical testing

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