ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.554G>C (p.Cys185Ser)

gnomAD frequency: 0.00010  dbSNP: rs747064078
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075851 SCV001241490 uncertain significance Retinal dystrophy 2019-08-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001303824 SCV001493084 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 185 of the FLVCR1 protein (p.Cys185Ser). This variant is present in population databases (rs747064078, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with FLVCR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 867215). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FLVCR1 protein function. 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.
Athena Diagnostics RCV001303824 SCV001880391 uncertain significance not provided 2021-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002555919 SCV003526826 uncertain significance Inborn genetic diseases 2021-11-05 criteria provided, single submitter clinical testing The c.554G>C (p.C185S) alteration is located in exon 1 (coding exon 1) of the FLVCR1 gene. This alteration results from a G to C substitution at nucleotide position 554, causing the cysteine (C) at amino acid position 185 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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