ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5865C>A (p.His1955Gln)

dbSNP: rs145225830
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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 RCV002668939 SCV003532561 uncertain significance Inborn genetic diseases 2021-07-09 criteria provided, single submitter clinical testing The c.5865C>A (p.H1955Q) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a C to A substitution at nucleotide position 5865, causing the histidine (H) at amino acid position 1955 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005399158 SCV006055026 uncertain significance Polycystic kidney disease, adult type 2024-11-15 criteria provided, single submitter clinical testing

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