ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.1166A>G (p.Asn389Ser)

dbSNP: rs1687791244
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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 RCV001246554 SCV001419916 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 415 of the CERKL protein (p.Asn415Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CERKL-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Natera, Inc. RCV001835273 SCV002080265 uncertain significance Retinitis pigmentosa 26 2020-10-14 no assertion criteria provided clinical testing

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