ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.1222G>A (p.Ala408Thr)

gnomAD frequency: 0.00007  dbSNP: rs150311697
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278020 SCV002565855 uncertain significance Ehlers-Danlos syndrome 2019-04-01 criteria provided, single submitter clinical testing
Invitae RCV003101588 SCV003446696 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 408 of the DSE protein (p.Ala408Thr). This variant is present in population databases (rs150311697, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DSE-related conditions. 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: "Benign"; Align-GVGD: "Not Available"). 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.
Ambry Genetics RCV004047526 SCV004859405 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.1222G>A (p.A408T) alteration is located in exon 6 (coding exon 5) of the DSE gene. This alteration results from a G to A substitution at nucleotide position 1222, causing the alanine (A) at amino acid position 408 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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