ClinVar Miner

Submissions for variant NM_020762.4(SRGAP1):c.806G>A (p.Cys269Tyr)

dbSNP: rs1208074975
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001254705 SCV001430774 uncertain significance Nephronophthisis 2020-05-28 criteria provided, single submitter research The heterozygous p.Cys269Tyr variant in SRGAP1 was identified by our study in 1 individual with nephronophthisis, as well as this individual's mother whose affection status is unknown (PMID: 26026792). This variant was absent from large population studies. In vitro functional studies provide some evidence that the p.Cys269Tyr variant may slightly impact protein function (PMID: 26026792). However, these types of assays may not accurately represent biological function. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. Furthermore, although this gene has been reported in association with nephronophthisis, it currently has limited evidence for these associations. In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PS3_supporting (Richards 2015).
Yale Center for Mendelian Genomics, Yale University RCV000845117 SCV000987053 pathogenic Congenital anomaly of kidney and urinary tract 2015-05-31 no assertion criteria provided literature only
Yale Center for Mendelian Genomics, Yale University RCV000845117 SCV002106498 pathogenic Congenital anomaly of kidney and urinary tract 2018-08-24 no assertion criteria provided literature only

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