ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.1609A>T (p.Ile537Phe)

gnomAD frequency: 0.00001  dbSNP: rs1213902929
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001986522 SCV002284990 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2 2022-07-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 537 of the DSE protein (p.Ile537Phe). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 1491434). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276976 SCV002565857 uncertain significance Ehlers-Danlos syndrome 2021-05-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003250387 SCV003942927 uncertain significance Inborn genetic diseases 2023-04-13 criteria provided, single submitter clinical testing The c.1609A>T (p.I537F) alteration is located in exon 6 (coding exon 5) of the DSE gene. This alteration results from a A to T substitution at nucleotide position 1609, causing the isoleucine (I) at amino acid position 537 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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