ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.37C>G (p.Leu13Val)

gnomAD frequency: 0.00006  dbSNP: rs982042024
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002779746 SCV003756299 uncertain significance Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing The c.37C>G (p.L13V) alteration is located in exon 1 (coding exon 1) of the PKD1 gene. This alteration results from a C to G substitution at nucleotide position 37, causing the leucine (L) at amino acid position 13 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005011200 SCV005640710 uncertain significance Polycystic kidney disease, adult type 2024-04-25 criteria provided, single submitter clinical testing

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