ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2807G>A (p.Arg936His)

gnomAD frequency: 0.00005  dbSNP: rs369076601
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002694401 SCV003741453 uncertain significance Inborn genetic diseases 2024-11-25 criteria provided, single submitter clinical testing The c.2807G>A (p.R936H) alteration is located in exon 11 (coding exon 11) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 2807, causing the arginine (R) at amino acid position 936 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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