ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe)

gnomAD frequency: 0.00009  dbSNP: rs754645310
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001108058 SCV001265252 uncertain significance Imerslund-Grasbeck syndrome type 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV001339701 SCV001533465 uncertain significance Imerslund-Grasbeck syndrome 2021-08-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482194 SCV002788119 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-04-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002556114 SCV003746964 uncertain significance Inborn genetic diseases 2022-05-04 criteria provided, single submitter clinical testing The c.10736C>T (p.S3579F) alteration is located in exon 66 (coding exon 66) of the CUBN gene. This alteration results from a C to T substitution at nucleotide position 10736, causing the serine (S) at amino acid position 3579 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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