ClinVar Miner

Submissions for variant NM_001034850.3(RETREG1):c.285C>G (p.Ser95Arg)

gnomAD frequency: 0.00001  dbSNP: rs1554026716
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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 RCV001301212 SCV001490374 uncertain significance not provided 2022-07-26 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 538131). This variant has not been reported in the literature in individuals affected with FAM134B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 95 of the FAM134B protein (p.Ser95Arg).
Ambry Genetics RCV004957943 SCV005485981 uncertain significance Inborn genetic diseases 2024-10-16 criteria provided, single submitter clinical testing The c.285C>G (p.S95R) alteration is located in exon 1 (coding exon 1) of the FAM134B gene. This alteration results from a C to G substitution at nucleotide position 285, causing the serine (S) at amino acid position 95 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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