ClinVar Miner

Submissions for variant NM_004924.6(ACTN4):c.763A>G (p.Lys255Glu)

gnomAD frequency: 0.00001  dbSNP: rs121908415
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001385888 SCV001585902 pathogenic not provided 2020-03-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect ACTN4 protein function (PMID: 10700177, 22351778). This variant has been observed in individual(s) with focal segmental glomerulosclerosis (PMID: 10700177). It has also been observed to segregate with disease in related individuals. This variant is also known as p.Lys228Glu in the literature. ClinVar contains an entry for this variant (Variation ID: 5420). This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamic acid at codon 255 of the ACTN4 protein (p.Lys255Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid.
Fulgent Genetics, Fulgent Genetics RCV000005753 SCV002810533 pathogenic Focal segmental glomerulosclerosis 1 2021-10-19 criteria provided, single submitter clinical testing
OMIM RCV000005753 SCV000025935 pathogenic Focal segmental glomerulosclerosis 1 2000-03-01 no assertion criteria provided literature only

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