ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.4502C>A (p.Pro1501Gln)

dbSNP: rs1553766363
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666813 SCV000791170 uncertain significance Autosomal recessive Alport syndrome 2017-05-01 criteria provided, single submitter clinical testing
GeneDx RCV001756127 SCV001986280 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing Identified with a second variant in an unknown phase in a patient with hematuric nephropathy in published literature (Morinire et al., 2014); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 24854265)
Fulgent Genetics, Fulgent Genetics RCV002477486 SCV002792073 uncertain significance Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2022-04-10 criteria provided, single submitter clinical testing
Invitae RCV001756127 SCV003525008 uncertain significance not provided 2022-02-10 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 1501 of the COL4A3 protein (p.Pro1501Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of Alport syndrome (PMID: 24854265). ClinVar contains an entry for this variant (Variation ID: 551687). 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 COL4A3 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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