ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1772C>T (p.Thr591Met)

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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 RCV004961908 SCV005468806 uncertain significance Inborn genetic diseases 2024-12-06 criteria provided, single submitter clinical testing The c.1772C>T (p.T591M) alteration is located in exon 9 (coding exon 9) of the PKD1 gene. This alteration results from a C to T substitution at nucleotide position 1772, causing the threonine (T) at amino acid position 591 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006586 SCV005643190 likely benign Polycystic kidney disease, adult type 2024-03-12 criteria provided, single submitter clinical testing

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