ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp)

gnomAD frequency: 0.00006  dbSNP: rs587783027
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731225 SCV000859012 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001102422 SCV001259093 uncertain significance Senior-Loken syndrome 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001102423 SCV001259094 uncertain significance Nephronophthisis 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001203996 SCV001375182 uncertain significance Nephronophthisis 2022-10-24 criteria provided, single submitter clinical testing 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. 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 NPHP4 protein function. ClinVar contains an entry for this variant (Variation ID: 156399). This variant is also known as p.G221D. This missense change has been observed in individual(s) with nephronopthisis (PMID: 26920127). This variant is present in population databases (rs587783027, gnomAD 0.1%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 733 of the NPHP4 protein (p.Gly733Asp).
Fulgent Genetics, Fulgent Genetics RCV002492524 SCV002784571 uncertain significance Nephronophthisis 4; Senior-Loken syndrome 4 2021-09-07 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, Seoul National University Hospital RCV000144481 SCV000189616 uncertain significance Leber congenital amaurosis 2014-09-18 no assertion criteria provided clinical testing

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