ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5786A>T (p.Glu1929Val)

dbSNP: rs2544809450
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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 RCV002827740 SCV003609138 uncertain significance Inborn genetic diseases 2022-03-22 criteria provided, single submitter clinical testing The c.5786A>T (p.E1929V) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a A to T substitution at nucleotide position 5786, causing the glutamic acid (E) at amino acid position 1929 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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