ClinVar Miner

Submissions for variant NM_013335.4(GMPPA):c.1052C>T (p.Ala351Val)

gnomAD frequency: 0.00001  dbSNP: rs750437487
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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 RCV001931348 SCV002198066 uncertain significance Alacrima, achalasia, and intellectual disability syndrome 2022-06-13 criteria provided, single submitter clinical testing 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with GMPPA-related conditions. This variant is present in population databases (rs750437487, gnomAD 0.007%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 351 of the GMPPA protein (p.Ala351Val).
Ambry Genetics RCV004041929 SCV004878340 uncertain significance Inborn genetic diseases 2023-11-14 criteria provided, single submitter clinical testing The c.1052C>T (p.A351V) alteration is located in exon 12 (coding exon 11) of the GMPPA gene. This alteration results from a C to T substitution at nucleotide position 1052, causing the alanine (A) at amino acid position 351 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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