ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.422C>T (p.Thr141Met)

dbSNP: rs267606735
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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 RCV000006420 SCV001535624 uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations 2022-03-11 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. Experimental studies have shown that this missense change affects CHST3 function (PMID: 19320654). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 6048). This missense change has been observed in individual(s) with spondyloepiphyseal dysplasia (PMID: 19320654). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 141 of the CHST3 protein (p.Thr141Met).
OMIM RCV000006420 SCV000026603 pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations 2009-04-01 no assertion criteria provided literature only

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