ClinVar Miner

Submissions for variant NM_001005498.4(RHBDF2):c.1531G>A (p.Gly511Ser)

gnomAD frequency: 0.00018  dbSNP: rs140196536
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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 RCV001125956 SCV001285094 benign Palmoplantar keratoderma-esophageal carcinoma syndrome 2018-01-13 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.
Baylor Genetics RCV001125956 SCV001483084 uncertain significance Palmoplantar keratoderma-esophageal carcinoma syndrome 2019-07-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238308 SCV002011004 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002556730 SCV003694233 uncertain significance Inborn genetic diseases 2022-02-03 criteria provided, single submitter clinical testing The c.1618G>A (p.G540S) alteration is located in exon 13 (coding exon 11) of the RHBDF2 gene. This alteration results from a G to A substitution at nucleotide position 1618, causing the glycine (G) at amino acid position 540 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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