ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1117C>G (p.Leu373Val)

gnomAD frequency: 0.00019  dbSNP: rs765067070
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992550 SCV001144947 uncertain significance not provided 2021-05-26 criteria provided, single submitter clinical testing
GeneDx RCV000992550 SCV002013299 likely benign not provided 2021-05-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26950445)
Ambry Genetics RCV002549798 SCV003723424 uncertain significance Inborn genetic diseases 2022-09-27 criteria provided, single submitter clinical testing The c.1117C>G (p.L373V) alteration is located in exon 5 (coding exon 5) of the PKD1 gene. This alteration results from a C to G substitution at nucleotide position 1117, causing the leucine (L) at amino acid position 373 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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