ClinVar Miner

Submissions for variant NM_005560.6(LAMA5):c.152A>G (p.Asn51Ser)

dbSNP: rs549102085
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823695 SCV002073325 uncertain significance Presynaptic congenital myasthenic syndrome criteria provided, single submitter clinical testing The missense variant p.N51S in LAMA5 (NM_005560.6) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.N51S variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. There is a small physicochemical difference between asparagine and serine, which is not likely to impact secondary protein structure as these residues share similar properties. The p.N51S missense variant is predicted to be damaging by both SIFT and PolyPhen2. The nucleotide c.152 in LAMA5 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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