ClinVar Miner

Submissions for variant NM_014334.4(FRRS1L):c.-17G>C

dbSNP: rs1831566217
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335653 SCV001528846 uncertain significance Developmental and epileptic encephalopathy, 37 2018-04-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001335653 SCV003461574 uncertain significance Developmental and epileptic encephalopathy, 37 2022-06-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 46 of the FRRS1L protein (p.Arg46Pro). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with FRRS1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 1033285). 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: "Not Available"; 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 RCV003246894 SCV003951828 uncertain significance Inborn genetic diseases 2023-04-19 criteria provided, single submitter clinical testing The c.137G>C (p.R46P) alteration is located in exon 1 (coding exon 1) of the FRRS1L gene. This alteration results from a G to C substitution at nucleotide position 137, causing the arginine (R) at amino acid position 46 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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