ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.3G>T (p.Met1Ile) (rs899735028)

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Total submissions: 2
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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
Invitae RCV001207460 SCV001378815 pathogenic not provided 2020-04-02 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the FLVCR1 mRNA. The next in-frame methionine is located at codon 151. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. 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. 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:21070897,28559085,22483575). 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.

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