ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.757A>G (p.Lys253Glu)

gnomAD frequency: 0.00009  dbSNP: rs200328073
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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 RCV001161939 SCV001323859 uncertain significance Hereditary spastic paraplegia 5A 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 RCV002071008 SCV002454354 likely benign Spastic paraplegia 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163351 SCV003868360 uncertain significance Inborn genetic diseases 2023-02-02 criteria provided, single submitter clinical testing The c.757A>G (p.K253E) alteration is located in exon 3 (coding exon 3) of the CYP7B1 gene. This alteration results from a A to G substitution at nucleotide position 757, causing the lysine (K) at amino acid position 253 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Athena Diagnostics RCV003482331 SCV004229200 uncertain significance not provided 2023-06-14 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is higher than would generally be expected for pathogenic variants in this gene ( Computational tools predict that this variant is not damaging.

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