ClinVar Miner

Submissions for variant NM_198129.3(LAMA3):c.9311C>T (p.Ala3104Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809235 SCV000949378 pathogenic not provided 2018-12-13 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1495 of the LAMA3 protein (p.Ala1495Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs571009750, ExAC 0.04%). This variant has been observed in individuals with junctional epidermolysis bullosa (PMID: 22434185, 27827380). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.

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