ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp) (rs774248421)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000372584 SCV000452620 uncertain significance Congenital contractural arachnodactyly 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756154 SCV000883878 uncertain significance not provided 2018-03-04 criteria provided, single submitter clinical testing The FBN2 c.2902A>G; p.Asn968Asp variant (rs774248421; ClinVar variant ID 350783), 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 overall population frequency of 0.004% (identified on 13 out of 277,076 chromosomes) and an Ashkenazi Jewish population frequency of 0.12% (identified on 12 out of 10,150 chromosomes). The asparagine at position 968 is moderately conserved, considering 11 species, and computational analyses of the effects of the p.Asn968Asp 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.Asn968Asp variant cannot be determined with certainty.
Invitae RCV000756154 SCV001018358 likely benign not provided 2018-12-05 criteria provided, single submitter clinical testing
Invitae RCV000372584 SCV001708965 likely benign Congenital contractural arachnodactyly 2018-12-05 criteria provided, single submitter clinical testing

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