ClinVar Miner

Submissions for variant NM_003901.4(SGPL1):c.1366C>T (p.Arg456Cys)

gnomAD frequency: 0.00011  dbSNP: rs778595060
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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 RCV002027857 SCV002314927 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 456 of the SGPL1 protein (p.Arg456Cys). This variant is present in population databases (rs778595060, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with SGPL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1521359). 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 C15"). 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 RCV004044741 SCV004948736 uncertain significance Inborn genetic diseases 2023-12-22 criteria provided, single submitter clinical testing The c.1366C>T (p.R456C) alteration is located in exon 13 (coding exon 12) of the SGPL1 gene. This alteration results from a C to T substitution at nucleotide position 1366, causing the arginine (R) at amino acid position 456 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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