ClinVar Miner

Submissions for variant NM_005560.6(LAMA5):c.7975C>T (p.Arg2659Trp)

gnomAD frequency: 0.00002  dbSNP: rs201012962
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000758707 SCV004297352 uncertain significance not provided 2023-11-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 2659 of the LAMA5 protein (p.Arg2659Trp). This variant is present in population databases (rs201012962, gnomAD 0.05%). This missense change has been observed in individual(s) with clinical features of LAMA5-related conditions (PMID: 28544784). ClinVar contains an entry for this variant (Variation ID: 619598). 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) performed at Invitae indicates that this missense variant is not expected to disrupt LAMA5 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000758707 SCV000887481 uncertain significance not provided 2023-11-02 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291038 SCV001479365 likely pathogenic Presynaptic congenital myasthenic syndrome no assertion criteria provided research

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