ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1673C>T (p.Thr558Met)

gnomAD frequency: 0.00009  dbSNP: rs781572938
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV003994734 SCV004812775 likely benign Autosomal dominant polycystic kidney disease 2023-05-04 criteria provided, single submitter clinical testing This sequence change in PKD1 is predicted to replace threonine with methionine at codon 558, p.(Thr558Met). The threonine residue is moderately conserved (100 vertebrates, UCSC) and computational evidence predicts a benign effect for the missense substitution (REVEL = 0.025).This variant has been observed in a patient with an alternate molecular basis for disease and co-occurs with a de novo pathogenic frameshift variant (c.11313delG, p.Ser3771SerfsX54) (PMID:26632257). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.5.1, this variant is classified as LIKELY BENIGN. Following criteria are met: BP4, BP5
Fulgent Genetics, Fulgent Genetics RCV005006354 SCV005638409 likely benign Polycystic kidney disease, adult type 2024-03-15 criteria provided, single submitter clinical testing

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