ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7870C>T (p.Arg2624Trp)

gnomAD frequency: 0.00005  dbSNP: rs766658912
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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 RCV004498900 SCV005005296 uncertain significance Inborn genetic diseases 2023-03-13 criteria provided, single submitter clinical testing The c.7870C>T (p.R2624W) alteration is located in exon 21 (coding exon 21) of the PKD1 gene. This alteration results from a C to T substitution at nucleotide position 7870, causing the arginine (R) at amino acid position 2624 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005392814 SCV006055069 uncertain significance Polycystic kidney disease, adult type 2022-02-09 criteria provided, single submitter clinical testing

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