ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.299T>A (p.Met100Lys)

dbSNP: rs104893871
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000009256 SCV000797524 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2018-02-05 criteria provided, single submitter clinical testing
Mendelics RCV000009256 SCV001136738 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000009256 SCV002261967 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 100 of the SGCB protein (p.Met100Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with SGCB-related conditions (PMID: 8968749, 12566530, 15938574). ClinVar contains an entry for this variant (Variation ID: 8718). 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 disruptive. 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.
Baylor Genetics RCV000009256 SCV004208743 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-08-28 criteria provided, single submitter clinical testing
OMIM RCV000009256 SCV000029474 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 1996-12-01 no assertion criteria provided literature only

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