ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.370G>A (p.Ala124Thr)

gnomAD frequency: 0.00002  dbSNP: rs771405037
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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 RCV001983155 SCV002241521 uncertain significance not provided 2021-11-23 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with ENPP1-related conditions. This variant is present in population databases (rs771405037, gnomAD 0.007%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 124 of the ENPP1 protein (p.Ala124Thr).
Ambry Genetics RCV002564408 SCV003643755 uncertain significance Inborn genetic diseases 2022-08-29 criteria provided, single submitter clinical testing The c.370G>A (p.A124T) alteration is located in exon 3 (coding exon 3) of the ENPP1 gene. This alteration results from a G to A substitution at nucleotide position 370, causing the alanine (A) at amino acid position 124 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005032029 SCV005667180 uncertain significance Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome; Inherited obesity 2024-02-03 criteria provided, single submitter clinical testing

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