ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.44A>G (p.Asn15Ser)

dbSNP: rs1560568898
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687273 SCV000814832 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-08-04 criteria provided, single submitter clinical testing 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SGCB-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 15 of the SGCB protein (p.Asn15Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine.
Natera, Inc. RCV000687273 SCV002082995 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2020-08-20 no assertion criteria provided clinical testing

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