ClinVar Miner

Submissions for variant NM_005560.6(LAMA5):c.2171C>G (p.Ser724Cys)

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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 RCV004819017 SCV005439063 uncertain significance Nephrotic syndrome, IIa 26 2023-06-22 criteria provided, single submitter clinical testing The observed missense c.2171C>Gp.Ser724Cys variant in LAMA5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. The amino acid Ser at position 724 is changed to a Cys changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Ser724Cys in LAMA5 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Multiple lines of computational evidence Polyphen - Damaging, SIFT - Damaging, and MutationTaster - Disease causing predict a damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance.

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