ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.3G>T (p.Met1Ile)

gnomAD frequency: 0.00001  dbSNP: rs899735028
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624418 SCV000741927 pathogenic Inborn genetic diseases 2016-12-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001207460 SCV001378815 pathogenic not provided 2022-11-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 521373). This variant disrupts the p.Asn121 amino acid residue in FLVCR1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 21070897, 22483575, 28559085). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. Disruption of the initiator codon has been observed in individual(s) with sensory and autonomic neuropathy (PMID: 31408049). It has also been observed to segregate with disease in related individuals. This sequence change affects the initiator methionine of the FLVCR1 mRNA. The next in-frame methionine is located at codon 151. This variant is not present in population databases (gnomAD no frequency).
OMIM RCV005049619 SCV005684948 pathogenic Posterior column ataxia-retinitis pigmentosa syndrome 2025-01-21 no assertion criteria provided literature only

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