ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.35T>A (p.Phe12Tyr)

gnomAD frequency: 0.00024  dbSNP: rs142885560
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762432 SCV000892748 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000762432 SCV002072697 uncertain significance not provided 2022-01-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001855954 SCV002310811 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2 2022-10-30 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 12 of the DSE protein (p.Phe12Tyr). This variant is present in population databases (rs142885560, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with DSE-related conditions. ClinVar contains an entry for this variant (Variation ID: 624264). 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"). 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 RCV002533907 SCV003629078 uncertain significance Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing The c.35T>A (p.F12Y) alteration is located in exon 2 (coding exon 1) of the DSE gene. This alteration results from a T to A substitution at nucleotide position 35, causing the phenylalanine (F) at amino acid position 12 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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