ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11404C>A (p.Leu3802Met)

dbSNP: rs756308252
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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 RCV003265822 SCV003948443 uncertain significance Inborn genetic diseases 2023-05-05 criteria provided, single submitter clinical testing The c.11401C>A (p.L3801M) alteration is located in exon 40 (coding exon 40) of the PKD1 gene. This alteration results from a C to A substitution at nucleotide position 11401, causing the leucine (L) at amino acid position 3801 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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