ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu) (rs139836397)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000342508 SCV000334587 likely pathogenic not provided 2018-05-09 criteria provided, single submitter clinical testing
Invitae RCV000813198 SCV000953543 uncertain significance Limb-girdle muscular dystrophy, type 2A 2018-10-02 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 419 of the CAPN3 protein (p.Asp419Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is present in population databases (rs139836397, ExAC 0.002%). This variant has been observed in a family affected with autosomal recessive limb girdle muscular dystrophy (PMID: 18055493). ClinVar contains an entry for this variant (Variation ID: 282873). Experimental studies have shown that this missense change alters protein function and stability (PMID: 19226146). This variant disrupts the p.Asp419 amino acid residue in CAPN3. Another variant that disrupts this residue has been observed in affected individuals (PMID: 18055493), which suggests that this may be a clinically significant amino acid residue. 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.

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