Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000900474 | SCV001044794 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002502655 | SCV002813777 | likely benign | Autosomal recessive Alport syndrome; Benign familial hematuria | 2021-07-19 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000900474 | SCV001551444 | uncertain significance | not provided | no assertion criteria provided | clinical testing | The COL4A4 p.Arg1006Ser variant was not identified in the literature nor was it identified in ClinVar. The variant was identified in dbSNP (ID: rs531161419) and in control databases in 81 of 249572 chromosomes (1 homozygous) at a frequency of 0.0003246 (Genome Aggregation Database March 6, 2019, v2.1.1). The variant was observed in the following populations: South Asian in 80 of 30602 chromosomes (freq: 0.002614) and Other in 1 of 6064 chromosomes (freq: 0.000165), but was not observed in the African, Latino, Ashkenazi Jewish, East Asian, European (Finnish), or European (non-Finnish) populations. The p.Arg1006 residue is conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. | |
Natera, |
RCV001830963 | SCV002078879 | likely benign | Alport syndrome | 2020-03-05 | no assertion criteria provided | clinical testing |