ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile)

dbSNP: rs397515409
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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) RCV000347230 SCV000341225 uncertain significance not provided 2016-04-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001297371 SCV001486383 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2020-03-27 criteria provided, single submitter clinical testing 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with clinical features of ISPD-related disease (PMID: 23217329). ClinVar contains an entry for this variant (Variation ID: 39612). This variant is present in population databases (rs397515409, ExAC 0.008%). This sequence change replaces threonine with isoleucine at codon 238 of the ISPD protein (p.Thr238Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. 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.
OMIM RCV000032812 SCV000056580 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 2012-12-07 no assertion criteria provided literature only

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