ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.793C>A (p.Leu265Met)

dbSNP: rs746176256
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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 RCV001303929 SCV001493196 uncertain significance Amelocerebrohypohidrotic syndrome 2020-06-22 criteria provided, single submitter clinical testing This sequence change replaces leucine with methionine at codon 265 of the ROGDI protein (p.Leu265Met). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and methionine. This variant is present in population databases (rs746176256, ExAC 0.02%). This variant has not been reported in the literature in individuals with ROGDI-related conditions. 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"). 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 RCV004036296 SCV005013638 uncertain significance Inborn genetic diseases 2023-12-08 criteria provided, single submitter clinical testing The c.793C>A (p.L265M) alteration is located in exon 10 (coding exon 10) of the ROGDI gene. This alteration results from a C to A substitution at nucleotide position 793, causing the leucine (L) at amino acid position 265 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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