ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.94G>C (p.Asp32His)

dbSNP: rs1593412219
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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 RCV001347499 SCV001541765 uncertain significance Retinoblastoma 2020-02-04 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RB1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces aspartic acid with histidine at codon 32 of the RB1 protein (p.Asp32His). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and histidine.
Baylor Genetics RCV004570843 SCV005054139 uncertain significance Malignant tumor of urinary bladder 2024-01-23 criteria provided, single submitter clinical testing

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