ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.2113T>C (p.Tyr705His)

gnomAD frequency: 0.00009  dbSNP: rs377325321
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001280720 SCV001468034 uncertain significance not provided 2020-08-18 criteria provided, single submitter clinical testing
GeneDx RCV001280720 SCV001783462 uncertain significance not provided 2020-08-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001871617 SCV002143139 uncertain significance Muscle AMP deaminase deficiency 2024-01-11 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 738 of the AMPD1 protein (p.Tyr738His). This variant is present in population databases (rs377325321, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 992300). 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 disruptive. 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 RCV003294181 SCV003988726 uncertain significance Inborn genetic diseases 2023-04-20 criteria provided, single submitter clinical testing The c.2212T>C (p.Y738H) alteration is located in exon 16 (coding exon 16) of the AMPD1 gene. This alteration results from a T to C substitution at nucleotide position 2212, causing the tyrosine (Y) at amino acid position 738 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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