ClinVar Miner

Submissions for variant NM_013335.4(GMPPA):c.958C>T (p.Arg320Trp)

gnomAD frequency: 0.00011  dbSNP: rs549821547
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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 RCV001234428 SCV001407073 uncertain significance Alacrima, achalasia, and intellectual disability syndrome 2021-11-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 320 of the GMPPA protein (p.Arg320Trp). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with GMPPA-related conditions. ClinVar contains an entry for this variant (Variation ID: 960828). 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 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.
Ambry Genetics RCV003166441 SCV003872035 uncertain significance Inborn genetic diseases 2023-02-16 criteria provided, single submitter clinical testing The c.958C>T (p.R320W) alteration is located in exon 11 (coding exon 10) of the GMPPA gene. This alteration results from a C to T substitution at nucleotide position 958, causing the arginine (R) at amino acid position 320 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004695248 SCV005188322 uncertain significance not provided criteria provided, single submitter not provided

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