ClinVar Miner

Submissions for variant NM_001005498.4(RHBDF2):c.1375C>G (p.Leu459Val)

gnomAD frequency: 0.00001  dbSNP: rs147599098
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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 RCV001125957 SCV001285095 benign Palmoplantar keratoderma-esophageal carcinoma syndrome 2018-03-26 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Ambry Genetics RCV002556731 SCV003572156 uncertain significance Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing The c.1462C>G (p.L488V) alteration is located in exon 12 (coding exon 10) of the RHBDF2 gene. This alteration results from a C to G substitution at nucleotide position 1462, causing the leucine (L) at amino acid position 488 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV001125957 SCV004206789 uncertain significance Palmoplantar keratoderma-esophageal carcinoma syndrome 2023-07-29 criteria provided, single submitter clinical testing

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