ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.2318C>G (p.Thr773Ser)

gnomAD frequency: 0.00003  dbSNP: rs200658389
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001108669 SCV001265935 uncertain significance Imerslund-Grasbeck syndrome type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV002497519 SCV002783345 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004978019 SCV005567732 uncertain significance Inborn genetic diseases 2024-11-23 criteria provided, single submitter clinical testing The c.2318C>G (p.T773S) alteration is located in exon 18 (coding exon 18) of the CUBN gene. This alteration results from a C to G substitution at nucleotide position 2318, causing the threonine (T) at amino acid position 773 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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