ClinVar Miner

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

dbSNP: rs138672830
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Total submissions: 6
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV001088603 SCV001008448 likely benign Autosomal recessive polycystic kidney disease 2024-10-24 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.
Fulgent Genetics, Fulgent Genetics RCV005036069 SCV005671024 uncertain significance Polycystic kidney disease 4 2024-06-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001088603 SCV001463516 uncertain significance Autosomal recessive polycystic kidney disease 2018-05-07 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004748950 SCV005353360 uncertain significance PKHD1-related disorder 2024-04-29 no assertion criteria provided clinical testing The PKHD1 c.1255G>A variant is predicted to result in the amino acid substitution p.Val419Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.092% of alleles in individuals of African descent in gnomAD, which may be too common to be an unreported cause of disease. Although we suspect that this variant may possibly be benign, at this time its clinical significance is uncertain due to the absence of conclusive functional and genetic evidence.

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