ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.838C>T (p.His280Tyr)

gnomAD frequency: 0.00001  dbSNP: rs575493480
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001236532 SCV001409260 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 280 of the CEP290 protein (p.His280Tyr). This variant is present in population databases (rs575493480, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. ClinVar contains an entry for this variant (Variation ID: 962643). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CEP290 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.
Ambry Genetics RCV002563862 SCV003755953 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.838C>T (p.H280Y) alteration is located in exon 10 (coding exon 9) of the CEP290 gene. This alteration results from a C to T substitution at nucleotide position 838, causing the histidine (H) at amino acid position 280 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828880 SCV002094346 uncertain significance Leber congenital amaurosis 2020-03-17 no assertion criteria provided clinical testing

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