ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.957C>G (p.Ile319Met)

dbSNP: rs1310593535
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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 RCV001341784 SCV001535675 uncertain significance not provided 2024-09-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 319 of the ALPL protein (p.Ile319Met). This variant is present in population databases (no rsID available, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of hypophosphatemia (PMID: 34633109). ClinVar contains an entry for this variant (Variation ID: 1038469). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ALPL protein function with a positive predictive value of 95%. 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 RCV002547411 SCV003671075 uncertain significance Inborn genetic diseases 2022-12-01 criteria provided, single submitter clinical testing The c.957C>G (p.I319M) alteration is located in exon 9 (coding exon 8) of the ALPL gene. This alteration results from a C to G substitution at nucleotide position 957, causing the isoleucine (I) at amino acid position 319 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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