ClinVar Miner

Submissions for variant NM_013335.4(GMPPA):c.1105A>G (p.Met369Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002900545 SCV003252497 uncertain significance Alacrima, achalasia, and intellectual disability syndrome 2023-04-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2045529). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 369 of the GMPPA protein (p.Met369Val). This variant is present in population databases (rs200549556, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with GMPPA-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. 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 RCV002908704 SCV003700480 uncertain significance Inborn genetic diseases 2021-10-06 criteria provided, single submitter clinical testing The c.1105A>G (p.M369V) alteration is located in exon 12 (coding exon 11) of the GMPPA gene. This alteration results from a A to G substitution at nucleotide position 1105, causing the methionine (M) at amino acid position 369 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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