ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6439G>A (p.Asp2147Asn)

gnomAD frequency: 0.00003  dbSNP: rs370650204
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224771 SCV001396991 likely benign Congenital contractural arachnodactyly 2023-04-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812258 SCV002049789 uncertain significance not provided 2021-10-07 criteria provided, single submitter clinical testing The FBN2 c.6439G>A; p.Asp2147Asn variant (rs370650204), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 952629). This variant is found in the general population with an overall allele frequency of 0.002% (8/282746 alleles, including one homozygote) in the Genome Aggregation Database. The aspartate at codon 2147 is moderately conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.393). Given the lack of clinical and functional data, the significance of the p.Asp2147Asn variant is uncertain at this time.

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