ClinVar Miner

Submissions for variant NM_030787.4(CFHR5):c.486dup (p.Glu163fs) (rs565457964)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455834 SCV000538667 uncertain significance not specified 2017-10-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Glu163ArgfsX3 5 variant in CFHR5 (also reported as p.Glu163Arg and p.Asn197Stop) has been prev iously reported in at least two heterozygous individuals with CFHR5-deficiency a nd complement-mediated kidney diseases, as well as at least three asymptomatic i ndividuals (1 control and 2 family members of 1 of the heterozygotes; Monteferra nte 2007, Vernon 2012, and Figueres 2014). This variant has also been reported i n ClinVar (Variation ID#402534). It has been identified in 0.31% (395/126014) Eu ropean chromosomes by the Genome Aggregation Database (http://gnomad.broadinstit; rs565457964). This variant is predicted to cause a frameshift, which al ters the protein?s amino acid sequence beginning at position 163 and leads to a premature termination codon 35 amino acids downstream. This alteration is then p redicted to lead to a truncated or absent protein. In summary, while the clinica l significance of the p.Glu163ArgfsX35 variant is uncertain, these data suggest that it is more likely to be benign.
GeneDx RCV000767072 SCV000568842 uncertain significance not provided 2020-07-01 criteria provided, single submitter clinical testing Identified in individuals with renal disease, however, it has also been reported in clinically asymptomatic individuals (Monteferrante et al., 2007; Vernon et al., 2012; Figueres et al., 2014; Schapiro et al., 2019); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Observed in one homozygous clinically unaffected adult relative of an individual referred for genetic testing at GeneDx; Also known as c.485dupA and Asn1975Stop using alternate nomenclature; This variant is associated with the following publications: (PMID: 30295827, 31664448, 22503529, 25260719, 17000000, 31980526)
Invitae RCV000767072 SCV001028978 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000030802 SCV001135489 benign CFHR5 deficiency 2019-05-28 criteria provided, single submitter clinical testing
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171343 SCV001328290 uncertain significance Chronic kidney disease 2020-05-28 criteria provided, single submitter research PVS1, BS1
Mayo Clinic Laboratories, Mayo Clinic RCV000767072 SCV001715641 uncertain significance not provided 2020-07-28 criteria provided, single submitter clinical testing
OMIM RCV000030802 SCV000053471 pathogenic CFHR5 deficiency 2021-03-30 no assertion criteria provided literature only

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