ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.829G>A (p.Val277Met)

gnomAD frequency: 0.00002  dbSNP: rs759234056
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712943 SCV000843502 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001366273 SCV001562572 uncertain significance Amelocerebrohypohidrotic syndrome 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 277 of the ROGDI protein (p.Val277Met). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with ROGDI-related conditions. ClinVar contains an entry for this variant (Variation ID: 586408). 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 C0"). 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.
Ambry Genetics RCV003362924 SCV004054492 uncertain significance Inborn genetic diseases 2023-08-08 criteria provided, single submitter clinical testing The c.829G>A (p.V277M) alteration is located in exon 11 (coding exon 11) of the ROGDI gene. This alteration results from a G to A substitution at nucleotide position 829, causing the valine (V) at amino acid position 277 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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