ClinVar Miner

Submissions for variant NM_014314.4(RIGI):c.2728G>T (p.Asp910Tyr)

gnomAD frequency: 0.00011  dbSNP: rs377348789
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001342569 SCV001536512 uncertain significance not provided 2022-08-19 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 1039146). This variant has not been reported in the literature in individuals affected with DDX58-related conditions. This variant is present in population databases (rs377348789, gnomAD 0.03%). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 910 of the DDX58 protein (p.Asp910Tyr).
Ambry Genetics RCV004035998 SCV004938714 uncertain significance Inborn genetic diseases 2022-01-26 criteria provided, single submitter clinical testing The c.2728G>T (p.D910Y) alteration is located in exon 18 (coding exon 18) of the DDX58 gene. This alteration results from a G to T substitution at nucleotide position 2728, causing the aspartic acid (D) at amino acid position 910 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect - Invitae Patient Insights Network RCV001535503 SCV001749456 not provided Singleton-Merten syndrome 2 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 10-30-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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