ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.841G>A (p.Asp281Asn)

gnomAD frequency: 0.00005  dbSNP: rs374923265
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595181 SCV000708778 uncertain significance not provided 2017-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000814022 SCV000954410 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 281 of the SGCB protein (p.Asp281Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs374923265, ExAC 0.04%). This missense change has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 28687063). ClinVar contains an entry for this variant (Variation ID: 502151). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000595181 SCV001715838 uncertain significance not provided 2019-12-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000814022 SCV002082969 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2020-03-19 no assertion criteria provided clinical testing

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