ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.707G>A (p.Arg236His)

gnomAD frequency: 0.00003  dbSNP: rs371250204
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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 RCV000706330 SCV000835373 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 236 of the MFSD8 protein (p.Arg236His). This variant is present in population databases (rs371250204, gnomAD 0.004%). This missense change has been observed in individual(s) with developmental disorders (PMID: 32399599). ClinVar contains an entry for this variant (Variation ID: 582291). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Breakthrough Genomics, Breakthrough Genomics RCV004692195 SCV005190278 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001272737 SCV001454995 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2019-11-11 no assertion criteria provided clinical testing

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