ClinVar Miner

Submissions for variant NM_001034850.2(RETREG1):c.86C>T (p.Pro29Leu) (rs528532732)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000756131 SCV000769093 likely benign not provided 2019-08-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756131 SCV000883850 uncertain significance not provided 2018-04-25 criteria provided, single submitter clinical testing The FAM134B (aka RETREG1) c.86C>T; p.Pro29Leu variant (rs528532732), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with an East Asian population frequency of 0.3% (identified on 15 out of 5840 chromosomes). The proline at position 29 is weakly conserved, considering 11 species, and computational analyses of the effects of the p.Pro29Leu variant on protein structure and function do not predict a deleterious effect (SIFT: tolerated, PolyPhen-2: benign). Based on the available information, the clinical significance of the p.Pro29Leu variant cannot be determined with certainty.
Illumina Clinical Services Laboratory,Illumina RCV001158109 SCV001319725 uncertain significance Hereditary sensory and autonomic neuropathy type IIB 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, 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.

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