ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6160G>C (p.Val2054Leu)

gnomAD frequency: 0.00021  dbSNP: rs139419984
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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 RCV002675238 SCV003731924 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.6160G>C (p.V2054L) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a G to C substitution at nucleotide position 6160, causing the valine (V) at amino acid position 2054 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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