ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.530C>A (p.Thr177Lys)

dbSNP: rs571018862
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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 RCV000807179 SCV000947221 uncertain significance Amelocerebrohypohidrotic syndrome 2022-10-31 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 651754). This variant has not been reported in the literature in individuals affected with ROGDI-related conditions. 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 sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 177 of the ROGDI protein (p.Thr177Lys).
Ambry Genetics RCV004659220 SCV005156068 uncertain significance Inborn genetic diseases 2024-04-01 criteria provided, single submitter clinical testing The c.530C>A (p.T177K) alteration is located in exon 7 (coding exon 7) of the ROGDI gene. This alteration results from a C to A substitution at nucleotide position 530, causing the threonine (T) at amino acid position 177 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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