ClinVar Miner

Submissions for variant NM_001005498.4(RHBDF2):c.823del (p.Asp275fs)

dbSNP: rs1567876390
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000778519 SCV000914798 uncertain significance Palmoplantar keratoderma-esophageal carcinoma syndrome 2017-06-27 criteria provided, single submitter clinical testing The RHBDF2 c.910delG (p.Asp304MetfsTer33) variant results in a frameshift, and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance, but suspicious for pathogenicity for tylosis with esophageal cancer. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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