ClinVar Miner

Submissions for variant NM_004924.6(ACTN4):c.2410G>A (p.Asp804Asn)

gnomAD frequency: 0.00003  dbSNP: rs750429771
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001932552 SCV002137357 uncertain significance not provided 2021-03-21 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with ACTN4-related conditions. This variant is present in population databases (rs750429771, ExAC 0.01%). This sequence change replaces aspartic acid with asparagine at codon 804 of the ACTN4 protein (p.Asp804Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine.
Fulgent Genetics, Fulgent Genetics RCV002478163 SCV002783360 uncertain significance Focal segmental glomerulosclerosis 1 2022-02-11 criteria provided, single submitter clinical testing

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