ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1066C>A (p.Pro356Thr)

dbSNP: rs756204684
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705218 SCV000834204 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 356 of the MFSD8 protein (p.Pro356Thr). This variant is present in population databases (rs756204684, gnomAD 0.003%). This missense change has been observed in individual(s) with neuronal ceroid lipofuscinosis type 7 (PMID: 31489614). ClinVar contains an entry for this variant (Variation ID: 581405). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Mendelics RCV000705218 SCV001136772 likely pathogenic Neuronal ceroid lipofuscinosis 7 2020-11-08 criteria provided, single submitter clinical testing The substitution p.Pro356Thr is a highly conserved and rare variant (found in heterozygous state in 4 among 251290 alleles in GnomAD v2.0). It was seen in a homozygous state in 1 and in a compound heterozygous state in 2 patients with CLN7. We classify this variant as likely pathogenic
Natera, Inc. RCV001825394 SCV002084767 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2019-11-11 no assertion criteria provided clinical testing

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