ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.458C>A (p.Ala153Asp)

dbSNP: rs2092678870
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UGC Analisis Clinicos, Hospital Universitario Reina Sofia de Cordoba RCV002034886 SCV002107402 likely pathogenic Polycystic kidney disease, adult type 2021-12-21 no assertion criteria provided clinical testing This variant is missense type and results in a change from Ala to Asp in 153 aminoacid position in PKD1 gene. It is not reported in any mutation database and the poblational frequency remains unknown. In addition, the in silico prediction for this alteration is Likely Pathogenic. This alteration has been identificated in all members of the same family with conditional clinical features of polycystic kidney disease. In conclusion, we consider that this variant might be likely patogenic.

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