ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.419A>G (p.Asn140Ser)

gnomAD frequency: 0.00002  dbSNP: rs775409967
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000400638 SCV000336626 uncertain significance not provided 2015-11-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001247007 SCV001420404 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 140 of the SGCB protein (p.Asn140Ser). This variant is present in population databases (rs775409967, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with SGCB-related conditions. ClinVar contains an entry for this variant (Variation ID: 284136). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Natera, Inc. RCV001247007 SCV002082984 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2019-11-11 no assertion criteria provided clinical testing

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