ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.4020C>A (p.Asn1340Lys)

dbSNP: rs771310130
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200848 SCV000249987 uncertain significance not provided 2015-04-23 criteria provided, single submitter clinical testing TAAD is a genetically heterogeneous disorder characterized by aortic dilatation, aneurysms, dissections and/or aneurysms of other major arteries. It is estimated that this panel would detect a disease-causing mutation in approximately 20% of individuals with familial TAAD (Milewicz D et al., 2012). p.Asn1340Lys (N1340K) AAC>AAA: c.4020 C>A in exon 52 of the COL5A2 gene (NM_000393.3)A variant of unknown significance has been identified in the COL5A2 gene. The N1340K variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The N1340K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Furthermore, missense mutations in nearby residues have not been reported indicating this region of the protein may be tolerant of change. Data from control individuals was not available to assess whether N1340K may be a common benign variant in the general population. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. This variant was found in TAADV2-PANCARD
GenomeConnect, ClinGen RCV003227710 SCV003925468 not provided Ehlers-Danlos syndrome, classic type, 2 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 05-23-2015 by GeneDx. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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