ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.551A>G (p.Tyr184Cys)

gnomAD frequency: 0.00002  dbSNP: rs1365923535
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642670 SCV000764357 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 184 of the SGCB protein (p.Tyr184Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (PMID: 10660328, 30764848; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 534948). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SGCB protein function with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000642670 SCV000789305 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2017-01-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726283 SCV001962566 likely pathogenic not provided 2021-08-01 criteria provided, single submitter clinical testing

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