ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)

gnomAD frequency: 0.00002  dbSNP: rs777999875
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411938 SCV000485496 likely pathogenic Autosomal recessive polycystic kidney disease 2015-12-23 criteria provided, single submitter clinical testing
Invitae RCV000411938 SCV000754658 pathogenic Autosomal recessive polycystic kidney disease 2023-05-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PKHD1 protein function. ClinVar contains an entry for this variant (Variation ID: 370239). This missense change has been observed in individuals with autosomal recessive polycystic kidney disease (PMID: 15698423, 29956005). This variant is present in population databases (rs777999875, gnomAD 0.004%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1838 of the PKHD1 protein (p.Tyr1838Cys).
Fulgent Genetics, Fulgent Genetics RCV002488836 SCV002786253 pathogenic Polycystic kidney disease 4 2022-02-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV002488836 SCV004204657 likely pathogenic Polycystic kidney disease 4 2023-05-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000411938 SCV002078078 likely pathogenic Autosomal recessive polycystic kidney disease 2017-09-06 no assertion criteria provided clinical testing

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