ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.100G>A (p.Gly34Ser)

gnomAD frequency: 0.00003  dbSNP: rs769630452
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001866833 SCV002119730 uncertain significance not provided 2022-10-17 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 1355272). This missense change has been observed in individual(s) with clinical features of Rothmund-Thomson syndrome (PMID: 32369273). This variant is present in population databases (rs769630452, gnomAD 0.03%). This sequence change replaces glycine with serine at codon 34 of the USB1 protein (p.Gly34Ser). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and serine.
Mayo Clinic Laboratories, Mayo Clinic RCV001866833 SCV002541328 uncertain significance not provided 2021-04-07 criteria provided, single submitter clinical testing

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