ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys)

gnomAD frequency: 0.00019  dbSNP: rs372170366
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002229797 SCV000284820 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-09-28 criteria provided, single submitter clinical testing
GeneDx RCV001582766 SCV001813394 uncertain significance not provided 2021-05-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; Stenson et al., 2014); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 237777; Landrum et al., 2016)
GenomeConnect, ClinGen RCV000232540 SCV000606951 not provided Ehlers-Danlos syndrome, classic type no assertion provided phenotyping only 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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