ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.7832A>G (p.Tyr2611Cys)

dbSNP: rs1480978100
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sydney Genome Diagnostics, Children's Hospital Westmead RCV001328203 SCV001449321 uncertain significance Congenital anomaly of kidney and urinary tract 2018-10-24 no assertion criteria provided clinical testing This fetus is heterozygous for a variant of unknown clinical significance (VOUS), c.7832A>G p.(Tyr2611Cys), in the FRAS1 gene. This variant is located in the Na-Ca integrin-beta4 domain of FRAS1. To our knowledge, this variant has not been previously reported in the literature to be disease causing and there is no allele frequency data for this variant. In silico analysis (Alamut Visual v2.4) using PolyPhen2, SIFT, Align GVGD and MutationTaster all suggest that this variant is likely to be a pathogenic variant.

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