ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.364G>A (p.Ala122Thr)

dbSNP: rs1781474657
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331799 SCV001523922 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2 2020-03-04 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001331799 SCV002293114 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2 2021-07-17 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. 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 1030282). This variant has not been reported in the literature in individuals affected with DSE-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 122 of the DSE protein (p.Ala122Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine.

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