ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5981G>C (p.Gly1994Ala)

dbSNP: rs1484900122
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619204 SCV000739792 uncertain significance Cardiovascular phenotype 2018-05-15 criteria provided, single submitter clinical testing The p.G1994A variant (also known as c.5981G>C), located in coding exon 48 of the FBN1 gene, results from a G to C substitution at nucleotide position 5981. The glycine at codon 1994 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002506511 SCV002817091 uncertain significance Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 2021-10-16 criteria provided, single submitter clinical testing

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