ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2172del (p.Gly726fs)

dbSNP: rs1806601043
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002307718 SCV002604574 likely pathogenic Polycystic kidney disease 4 2021-12-29 criteria provided, single submitter clinical testing NM_138694.3(PKHD1):c.2172delA(G726Afs*51) is expected to be pathogenic in the context of autosomal recessive polycystic kidney disease, PKHD1-related. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in PKHD1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Sydney Genome Diagnostics, Children's Hospital Westmead RCV001328215 SCV001449397 likely pathogenic Autosomal recessive polycystic kidney disease 2018-04-17 no assertion criteria provided clinical testing This individual is heterozygous for two variants, c.2172del (p.Gly726Alafs*51) and c.5830G>A (p.Asp1944Asn) in the PKHD1 gene. The phase (cis or trans) of these variants is unknown. c.2172del (p.Gly726Alafs*51) has not been listed in any population databases (i.e. ExAC, ESP or dbSNP). This frameshifting variant is predicted to create a premature stop codon (p.Gly726Alafs*51) and may result in a null allele due to nonsense-mediated mRNA decay. To our knowledge, this variant has not been previously reported in the literature or any variant databases associated with disease. However, other truncating mutations downstream of this amino acid have been described in patients with polycystic kidney disease (Bergmann et al 2005 Hum Mutat 25:225-231). This variant is considered to be likely pathogenic according to the ACMG guidelines.

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