ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.312C>T (p.Gly104=)

gnomAD frequency: 0.00007  dbSNP: rs946898891
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539418 SCV000626896 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001018749 SCV001180022 likely benign Hereditary cancer-predisposing syndrome 2019-02-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001545850 SCV001765260 uncertain significance not provided 2022-12-21 criteria provided, single submitter clinical testing In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Observed in an individual with retina hemangioma (Olschwang 1998); Observed in large population cohorts (gnomAD; internal data); This variant is associated with the following publications: (PMID: 9829912, 18584357)
PreventionGenetics, part of Exact Sciences RCV003392366 SCV004119461 uncertain significance VHL-related disorder 2022-11-21 criteria provided, single submitter clinical testing The VHL c.312C>T variant is not predicted to result in an amino acid change (p.=). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0086% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-10183843-C-T). It has conflicting interpretations of likely being and uncertain significance in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/456582/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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