ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val)

gnomAD frequency: 0.00003  dbSNP: rs104893918
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675095 SCV000800625 uncertain significance Multiple epiphyseal dysplasia type 4 2017-11-13 criteria provided, single submitter clinical testing
Invitae RCV000797878 SCV000937463 pathogenic Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2023-12-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 715 of the SLC26A2 protein (p.Ala715Val). This variant is present in population databases (rs104893918, gnomAD 0.01%). This missense change has been observed in individual(s) with SLC26A2-related skeletal dysplasia (PMID: 21077204). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 4091). 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 expected to disrupt SLC26A2 protein function with a positive predictive value of 80%. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on SLC26A2 function (PMID: 11448940, 15294877). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003472968 SCV004201748 likely pathogenic Achondrogenesis, type IB 2024-03-15 criteria provided, single submitter clinical testing
OMIM RCV000004309 SCV000024476 pathogenic Atelosteogenesis type II 1996-02-01 no assertion criteria provided literature only

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