ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.1580G>A (p.Cys527Tyr) (rs121913574)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078747 SCV000110607 uncertain significance not provided 2013-04-05 criteria provided, single submitter clinical testing
Invitae RCV000822637 SCV000963447 pathogenic Laminin alpha 2-related dystrophy 2020-07-08 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 527 of the LAMA2 protein (p.Cys527Tyr). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the homozygous state and in combination with a second LAMA2 variant in several individuals affected with congenital muscular dystrophy (PMID: 12552556, 23326386). It has also been observed on the opposite chromosome (in trans) from a pathogenic variant in individuals affected with features of congenital muscular dystrophy (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 14298). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000015368 SCV000035629 pathogenic Congenital muscular dystrophy due to partial LAMA2 deficiency 2003-02-01 no assertion criteria provided literature only

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