ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3655A>G (p.Met1219Val)

dbSNP: rs139100448
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788591 SCV000927752 uncertain significance not provided 2018-06-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501030 SCV002783607 uncertain significance Polycystic kidney disease, adult type 2024-03-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027371 SCV005005225 uncertain significance Inborn genetic diseases 2023-11-29 criteria provided, single submitter clinical testing The c.3655A>G (p.M1219V) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a A to G substitution at nucleotide position 3655, causing the methionine (M) at amino acid position 1219 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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