ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.1580G>A (p.Cys527Tyr)

gnomAD frequency: 0.00001  dbSNP: rs121913574
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078747 SCV000110607 uncertain significance not provided 2013-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000822637 SCV000963447 pathogenic LAMA2-related muscular dystrophy 2024-07-06 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 527 of the LAMA2 protein (p.Cys527Tyr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with features of congenital muscular dystrophy and congenital muscular dystrophy (PMID: 12552556, 23326386; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 14298). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on LAMA2 protein function. 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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