ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.3544A>G (p.Thr1182Ala) (rs537783084)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000590471 SCV000698508 uncertain significance not provided 2016-10-31 criteria provided, single submitter clinical testing Variant summary: The NPHS1 c.3544A>G (p.Thr1182Ala) variant involves the alteration of a non-conserved nucleotide and 4/5 in silico tools predict a benign outcome for this variant. However, there are no functional studies to confirm these prediction results. This variant is located in a region that binds with NPHS2 protein (UniProt). This variant was found in 25/121708 control chromosomes at a frequency of 0.0002054, which does not exceed the estimated maximal expected allele frequency of a pathogenic NPHS1 variant (0.0033541). This variant has been reported in two patients with nephrotic syndrome, one in homozygous state and other in compound heterozygousity with a novel variant p.Ser572Gly (Abid_2012, Weber_2016). An internal sample carrying this variant homozygously in cis with a known pathgenic variant, p.R1109*. Without additional segregational and functional studies the currently available genotype-phenotype and population data are not conclusive enough to establish the pathogenicity. Therefore, this variant has currently been classified as Variant of Uncertain Signficance (VUS).
Counsyl RCV000674130 SCV000799409 uncertain significance Finnish congenital nephrotic syndrome 2018-04-17 criteria provided, single submitter clinical testing

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