ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.361A>G (p.Asn121Asp)

gnomAD frequency: 0.00003  dbSNP: rs267606820
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001046647 SCV001210559 pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects FLVCR1 function (PMID: 22483575). 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: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 18418). This missense change has been observed in individual(s) with posterior column ataxia retinitis pigmentosa (PMID: 21070897, 28559085, 30444160). It is commonly reported in individuals of American Mennonite ancestry (PMID: 21070897, 30444160). This variant is present in population databases (rs267606820, gnomAD 0.0009%). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 121 of the FLVCR1 protein (p.Asn121Asp).
GeneDx RCV001046647 SCV005325163 pathogenic not provided 2024-01-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies demonstrate a damaging effect on protein function (PMID: 22483575); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22483575, 37808796, 26147798, 9409377, 27096365, 26986070, 26061684, 31345222, 38055060, 22279524, 30444160, 28559085, 31028937, 21070897)
OMIM RCV000001933 SCV000022091 pathogenic Posterior column ataxia-retinitis pigmentosa syndrome 2012-01-01 no assertion criteria provided literature only

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