ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11228A>G (p.Glu3743Gly)

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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 RCV005391710 SCV006046187 uncertain significance Inborn genetic diseases 2025-02-08 criteria provided, single submitter clinical testing The c.11225A>G (p.E3742G) alteration is located in exon 39 (coding exon 39) of the PKD1 gene. This alteration results from a A to G substitution at nucleotide position 11225, causing the glutamic acid (E) at amino acid position 3742 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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