ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.301G>T (p.Ala101Ser)

gnomAD frequency: 0.00028  dbSNP: rs199857926
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230997 SCV000291508 uncertain significance Perlman syndrome 2023-12-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 101 of the DIS3L2 protein (p.Ala101Ser). This variant is present in population databases (rs199857926, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with DIS3L2-related conditions. ClinVar contains an entry for this variant (Variation ID: 241977). 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 not expected to disrupt DIS3L2 protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV000230997 SCV000895419 uncertain significance Perlman syndrome 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001731459 SCV001982988 uncertain significance not provided 2021-09-23 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 germline variant to our knowledge; This variant is associated with the following publications: (PMID: 30344923)
Baylor Genetics RCV000230997 SCV002030232 uncertain significance Perlman syndrome 2021-01-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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