ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile)

dbSNP: rs138672830
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733367 SCV000861430 uncertain significance not provided 2018-05-24 criteria provided, single submitter clinical testing
Invitae RCV001088603 SCV001008448 likely benign Autosomal recessive polycystic kidney disease 2024-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535325 SCV003640753 uncertain significance Inborn genetic diseases 2023-08-30 criteria provided, single submitter clinical testing The c.1255G>A (p.V419I) alteration is located in exon 16 (coding exon 15) of the PKHD1 gene. This alteration results from a G to A substitution at nucleotide position 1255, causing the valine (V) at amino acid position 419 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001088603 SCV001463516 uncertain significance Autosomal recessive polycystic kidney disease 2018-05-07 no assertion criteria provided clinical testing

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