ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3937C>T (p.Leu1313Phe)

gnomAD frequency: 0.00007  dbSNP: rs370037119
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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 RCV002674415 SCV003721185 uncertain significance Inborn genetic diseases 2022-05-27 criteria provided, single submitter clinical testing The c.3937C>T (p.L1313F) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a C to T substitution at nucleotide position 3937, causing the leucine (L) at amino acid position 1313 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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