ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11827G>T (p.Ala3943Ser)

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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 RCV004961901 SCV005468796 uncertain significance Inborn genetic diseases 2024-07-16 criteria provided, single submitter clinical testing The c.11824G>T (p.A3942S) alteration is located in exon 43 (coding exon 43) of the PKD1 gene. This alteration results from a G to T substitution at nucleotide position 11824, causing the alanine (A) at amino acid position 3942 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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